CORO1A (coronin 1A) - Rat Genome Database

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Pathways
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Gene: CORO1A (coronin 1A) Homo sapiens
Analyze
Symbol: CORO1A
Name: coronin 1A
RGD ID: 732928
HGNC Page HGNC:2252
Description: Enables cytoskeletal protein binding activity; phosphatidylinositol 3-kinase binding activity; and protein homodimerization activity. Involved in several processes, including natural killer cell degranulation; negative regulation of actin nucleation; and phagolysosome assembly. Located in several cellular components, including actin cytoskeleton; immunological synapse; and phagocytic cup. Part of protein-containing complex. Implicated in coronin-1A deficiency.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: CLABP; clipin-A; CLIPINA; coronin, actin binding protein 1a; coronin, actin binding protein, 1A; coronin, actin-binding protein, 1A; coronin, actin-binding, 1A; coronin-1; coronin-1A; coronin-like protein A; coronin-like protein p57; FLJ41407; HCORO1; IMD8; MGC117380; p57; TACO; tryptophan aspartate-containing coat protein
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: LOC606724  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381630,183,602 - 30,189,076 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1630,182,827 - 30,189,076 (+)EnsemblGRCh38hg38GRCh38
GRCh371630,194,923 - 30,200,397 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361630,102,427 - 30,107,898 (+)NCBINCBI36Build 36hg18NCBI36
Build 341630,102,448 - 30,107,898NCBI
Celera1672,594,500 - 72,599,971 (-)NCBICelera
Cytogenetic Map16p11.2NCBI
HuRef1627,857,375 - 27,863,041 (+)NCBIHuRef
CHM1_11631,409,355 - 31,415,021 (+)NCBICHM1_1
T2T-CHM13v2.01630,468,184 - 30,473,658 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(1->4)-beta-D-glucan  (ISO)
1,1-dichloroethene  (ISO)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (ISO)
3,3',5,5'-tetrabromobisphenol A  (EXP)
3,4-methylenedioxymethamphetamine  (ISO)
3-chloropropane-1,2-diol  (ISO)
3H-1,2-dithiole-3-thione  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-amino-2,6-dinitrotoluene  (ISO)
7,12-dimethyltetraphene  (ISO)
acetamide  (ISO)
aflatoxin B1  (ISO)
all-trans-retinoic acid  (EXP)
ammonium chloride  (ISO)
antirheumatic drug  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
arsenous acid  (EXP)
atrazine  (EXP)
benzo[a]pyrene  (ISO)
bisphenol A  (EXP,ISO)
buta-1,3-diene  (ISO)
butanal  (EXP)
butyric acid  (EXP)
C60 fullerene  (ISO)
cadmium atom  (EXP)
cadmium dichloride  (EXP,ISO)
calcitriol  (EXP)
chenodeoxycholic acid  (EXP)
chloroprene  (ISO)
choline  (ISO)
chromium(6+)  (EXP)
cisplatin  (EXP)
copper atom  (ISO)
copper(0)  (ISO)
deguelin  (EXP)
deoxynivalenol  (ISO)
dextran sulfate  (ISO)
diarsenic trioxide  (EXP)
dimethylarsinic acid  (ISO)
dimethylselenide  (EXP)
dioxygen  (EXP)
diquat  (ISO)
diuron  (EXP)
dorsomorphin  (EXP)
endosulfan  (EXP)
ethanol  (ISO)
folic acid  (ISO)
formaldehyde  (EXP)
gentamycin  (ISO)
hydroxyl  (EXP)
hypochlorous acid  (ISO)
ivermectin  (EXP)
L-methionine  (ISO)
lipopolysaccharide  (ISO)
methotrexate  (EXP)
methyl methanesulfonate  (EXP)
methylarsonic acid  (ISO)
methylseleninic acid  (EXP)
N-nitrosodiethylamine  (ISO)
N-nitrosomorpholine  (ISO)
nickel atom  (EXP)
ozone  (EXP,ISO)
paracetamol  (ISO)
pentanal  (EXP)
perfluorohexanesulfonic acid  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
PhIP  (ISO)
pirinixic acid  (ISO)
resveratrol  (EXP,ISO)
rotenone  (EXP)
sarin  (ISO)
SB 431542  (EXP)
senecionine  (ISO)
silicon dioxide  (EXP,ISO)
simvastatin  (ISO)
sodium arsenate  (ISO)
sodium arsenite  (EXP,ISO)
sodium dichromate  (ISO)
Soman  (ISO)
tamibarotene  (EXP)
tamoxifen  (ISO)
testosterone  (ISO)
tetrachloromethane  (ISO)
thapsigargin  (EXP)
thioacetamide  (ISO)
titanium dioxide  (ISO)
trichloroethene  (ISO)
triptonide  (ISO)
tris(2-butoxyethyl) phosphate  (EXP)
tunicamycin  (EXP)
valproic acid  (EXP)
vinclozolin  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
actin cytoskeleton organization  (IMP)
actin filament organization  (IBA,IEA,ISO)
calcium ion transport  (IEA,ISO)
cell migration  (IBA)
cell-substrate adhesion  (IMP)
cellular response to interleukin-4  (IEA,ISO)
early endosome to recycling endosome transport  (IEA,ISO)
epithelial cell migration  (IEA,ISO)
establishment of localization in cell  (IEA,ISO)
homeostasis of number of cells within a tissue  (IEA,ISO)
immunological synapse formation  (IMP)
innate immune response  (NAS)
leukocyte chemotaxis  (IEA,ISO)
natural killer cell degranulation  (IMP)
negative regulation of actin nucleation  (IDA)
negative regulation of canonical NF-kappaB signal transduction  (ISO)
negative regulation of neuron apoptotic process  (IEA,ISO)
negative regulation of vesicle fusion  (IEA,ISO)
nerve growth factor signaling pathway  (IEA,ISO)
neuron apoptotic process  (IEA,ISO)
phagocytosis  (IMP)
phagolysosome assembly  (IMP)
positive chemotaxis  (IDA)
positive regulation of T cell activation  (IEA,ISO)
positive regulation of T cell migration  (IEA,ISO)
positive regulation of T cell proliferation  (IEA,ISO)
regulation of actin cytoskeleton organization  (IMP)
regulation of actin filament polymerization  (IEA,ISO)
regulation of actin polymerization or depolymerization  (IEA,ISO)
regulation of cell shape  (IEA,ISO)
regulation of release of sequestered calcium ion into cytosol  (IEA,ISO)
response to cytokine  (IEA,ISO)
T cell activation  (IEA,ISO)
T cell homeostasis  (IEA,ISO)
T cell migration  (IEA,ISO)
T cell proliferation  (IEA,ISO)
thymocyte migration  (IEA,ISO)
uropod organization  (IEA,ISO)
vesicle fusion  (IEA,ISO)

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
3. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
4. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
6. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:1286667   PMID:7758584   PMID:9365277   PMID:9778037   PMID:10338208   PMID:10749676   PMID:11094157   PMID:12132654   PMID:12477932   PMID:12673016   PMID:14702039   PMID:15203218  
PMID:15489334   PMID:15601263   PMID:15800061   PMID:16040207   PMID:16344560   PMID:16467882   PMID:17341475   PMID:17353931   PMID:17442961   PMID:17652161   PMID:18693254   PMID:18836449  
PMID:19454722   PMID:19946888   PMID:20458337   PMID:21339362   PMID:21653829   PMID:21873635   PMID:21873980   PMID:21988832   PMID:22364218   PMID:22658674   PMID:23100250   PMID:23182705  
PMID:23252456   PMID:23522482   PMID:23533145   PMID:23745754   PMID:24239742   PMID:24760828   PMID:24980436   PMID:25073507   PMID:25217836   PMID:25269405   PMID:25416956   PMID:25889880  
PMID:25936522   PMID:26186194   PMID:26344197   PMID:26476480   PMID:26641092   PMID:27173435   PMID:27779207   PMID:27835684   PMID:28215292   PMID:28514442   PMID:29509190   PMID:29715546  
PMID:29863498   PMID:30224337   PMID:30425250   PMID:30453345   PMID:30575818   PMID:31067453   PMID:31515488   PMID:31586073   PMID:32296183   PMID:32416067   PMID:32513696   PMID:32814053  
PMID:33378226   PMID:33961781   PMID:35256949   PMID:35509820   PMID:35526384   PMID:35583604   PMID:35915349   PMID:36215168   PMID:36244648   PMID:36307841   PMID:36490346   PMID:36634849  
PMID:36912080  


Genomics

Comparative Map Data
CORO1A
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381630,183,602 - 30,189,076 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1630,182,827 - 30,189,076 (+)EnsemblGRCh38hg38GRCh38
GRCh371630,194,923 - 30,200,397 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361630,102,427 - 30,107,898 (+)NCBINCBI36Build 36hg18NCBI36
Build 341630,102,448 - 30,107,898NCBI
Celera1672,594,500 - 72,599,971 (-)NCBICelera
Cytogenetic Map16p11.2NCBI
HuRef1627,857,375 - 27,863,041 (+)NCBIHuRef
CHM1_11631,409,355 - 31,415,021 (+)NCBICHM1_1
T2T-CHM13v2.01630,468,184 - 30,473,658 (+)NCBIT2T-CHM13v2.0
Coro1a
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm397126,298,946 - 126,303,925 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl7126,298,945 - 126,306,959 (-)EnsemblGRCm39 Ensembl
GRCm387126,699,774 - 126,704,816 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl7126,699,773 - 126,707,787 (-)EnsemblGRCm38mm10GRCm38
MGSCv377133,843,288 - 133,848,268 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv367126,490,922 - 126,495,902 (-)NCBIMGSCv36mm8
Celera7126,547,074 - 126,552,054 (-)NCBICelera
Cytogenetic Map7F3NCBI
cM Map769.25NCBI
Coro1a
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81190,726,129 - 190,731,133 (-)NCBIGRCr8
mRatBN7.21181,295,561 - 181,300,566 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1181,295,562 - 181,300,534 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1189,646,783 - 189,651,767 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01196,832,853 - 196,837,837 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01189,500,261 - 189,505,244 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01198,123,883 - 198,128,890 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1198,123,884 - 198,128,857 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01205,102,882 - 205,107,884 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41185,852,741 - 185,857,715 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11186,002,622 - 186,007,596 (-)NCBI
Celera1178,953,035 - 178,958,009 (-)NCBICelera
Cytogenetic Map1q36NCBI
Coro1a
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554936,811,430 - 6,826,485 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554936,815,148 - 6,820,295 (-)NCBIChiLan1.0ChiLan1.0
CORO1A
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21830,926,030 - 30,931,532 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11635,294,286 - 35,299,847 (-)NCBINHGRI_mPanPan1
PanPan1.11630,549,880 - 30,555,093 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1630,550,383 - 30,556,196 (+)Ensemblpanpan1.1panPan2
CORO1A
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1618,161,850 - 18,167,915 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl618,160,601 - 18,167,818 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha619,740,842 - 19,746,439 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0618,298,321 - 18,303,918 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl618,298,356 - 18,303,915 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1618,097,136 - 18,102,732 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0618,012,545 - 18,018,141 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0618,328,371 - 18,333,968 (+)NCBIUU_Cfam_GSD_1.0
Coro1a
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024409344124,240,682 - 124,246,391 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493650112,338,542 - 12,344,265 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493650112,338,542 - 12,344,236 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CORO1A
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl318,336,898 - 18,342,396 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1318,336,813 - 18,342,381 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
CORO1A
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1526,482,269 - 26,488,537 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl526,480,753 - 26,487,929 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660683,057,322 - 3,063,870 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Coro1a
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462478213,105,153 - 13,111,357 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462478213,106,416 - 13,111,394 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CORO1A
262 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_007074.4(CORO1A):c.1066-10T>G single nucleotide variant not provided [RCV000521482] Chr16:30188351 [GRCh38]
Chr16:30199672 [GRCh37]
Chr16:16p11.2		 likely benign|uncertain significance
NC_000016.9:g.(?_30078199)_(30199917_?)dup duplication Severe combined immunodeficiency due to CORO1A deficiency [RCV000525191] Chr16:30066878..30188596 [GRCh38]
Chr16:30078199..30199917 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_007074.4(CORO1A):c.248_249del (p.Pro83fs) deletion Severe combined immunodeficiency due to CORO1A deficiency [RCV000033858] Chr16:30186647..30186648 [GRCh38]
Chr16:30197968..30197969 [GRCh37]
Chr16:16p11.2		 pathogenic|likely pathogenic
GRCh37/hg19 16p11.2(chr16:29565626-30221925)x1 copy number loss See cases [RCV001564036] Chr16:29565626..30221925 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_007074.4(CORO1A):c.400G>A (p.Val134Met) single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV000054815] Chr16:30186894 [GRCh38]
Chr16:30198215 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29581462-30321260)x1 copy number loss See cases [RCV000050431] Chr16:29581462..30321260 [GRCh38]
Chr16:29592783..30332581 [GRCh37]
Chr16:29500284..30240082 [NCBI36]
Chr16:16p11.2		 pathogenic|likely pathogenic|conflicting data from submitters
GRCh38/hg38 16p11.2(chr16:29227272-30321260)x3 copy number gain See cases [RCV000051168] Chr16:29227272..30321260 [GRCh38]
Chr16:29238593..30332581 [GRCh37]
Chr16:29146094..30240082 [NCBI36]
Chr16:16p11.2		 pathogenic|uncertain significance
GRCh38/hg38 16p12.2-11.2(chr16:23047969-30632245)x3 copy number gain See cases [RCV000052401] Chr16:23047969..30632245 [GRCh38]
Chr16:23059290..30643566 [GRCh37]
Chr16:22966791..30551067 [NCBI36]
Chr16:16p12.2-11.2		 pathogenic
GRCh38/hg38 16p12.1-11.2(chr16:28456967-30295107)x1 copy number loss See cases [RCV000052520] Chr16:28456967..30295107 [GRCh38]
Chr16:28468288..30306428 [GRCh37]
Chr16:28375789..30213929 [NCBI36]
Chr16:16p12.1-11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29086504-30333716)x3 copy number gain See cases [RCV000054347] Chr16:29086504..30333716 [GRCh38]
Chr16:29097825..30345037 [GRCh37]
Chr16:29005326..30252538 [NCBI36]
Chr16:16p11.2		 pathogenic|uncertain significance
GRCh38/hg38 16p11.2(chr16:29566441-30187279)x1 copy number loss See cases [RCV000054258] Chr16:29566441..30187279 [GRCh38]
Chr16:29577762..30198600 [GRCh37]
Chr16:29485263..30106101 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29441012-30323310)x3 copy number gain See cases [RCV000054367] Chr16:29441012..30323310 [GRCh38]
Chr16:29452333..30334631 [GRCh37]
Chr16:29359834..30242132 [NCBI36]
Chr16:16p11.2		 pathogenic|uncertain significance
GRCh38/hg38 16p11.2(chr16:29566440-30187279)x3 copy number gain See cases [RCV000054369] Chr16:29566440..30187279 [GRCh38]
Chr16:29577761..30198600 [GRCh37]
Chr16:29485262..30106101 [NCBI36]
Chr16:16p11.2		 pathogenic|uncertain significance
GRCh38/hg38 16p11.2(chr16:29600893-30187279)x3 copy number gain See cases [RCV000054370] Chr16:29600893..30187279 [GRCh38]
Chr16:29612214..30198600 [GRCh37]
Chr16:29519715..30106101 [NCBI36]
Chr16:16p11.2		 pathogenic|uncertain significance
GRCh38/hg38 16p11.2(chr16:29645363-30323310)x3 copy number gain See cases [RCV000054371] Chr16:29645363..30323310 [GRCh38]
Chr16:29656684..30334631 [GRCh37]
Chr16:29564185..30242132 [NCBI36]
Chr16:16p11.2		 pathogenic|uncertain significance
GRCh38/hg38 16p11.2(chr16:29662633-30321260)x3 copy number gain See cases [RCV000054372] Chr16:29662633..30321260 [GRCh38]
Chr16:29673954..30332581 [GRCh37]
Chr16:29581455..30240082 [NCBI36]
Chr16:16p11.2		 pathogenic|conflicting data from submitters
GRCh38/hg38 16p11.2(chr16:29662635-30186020)x3 copy number gain See cases [RCV000054374] Chr16:29662635..30186020 [GRCh38]
Chr16:29673956..30197341 [GRCh37]
Chr16:29581457..30104842 [NCBI36]
Chr16:16p11.2		 pathogenic|likely pathogenic|uncertain significance
GRCh38/hg38 16p11.2(chr16:29662633-30187279)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054299]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054299]|See cases [RCV000054299] Chr16:29662633..30187279 [GRCh38]
Chr16:29673954..30198600 [GRCh37]
Chr16:16p11.2		 pathogenic|uncertain significance
GRCh38/hg38 16p11.2(chr16:29662633-30187279)x1 copy number loss See cases [RCV000054300] Chr16:29662633..30187279 [GRCh38]
Chr16:29673954..30198600 [GRCh37]
Chr16:29581455..30106101 [NCBI36]
Chr16:16p11.2		 pathogenic|conflicting data from submitters
GRCh38/hg38 16p11.2(chr16:29662635-30187279)x3 copy number gain See cases [RCV000054302] Chr16:29662635..30187279 [GRCh38]
Chr16:29673956..30198600 [GRCh37]
Chr16:29581457..30106101 [NCBI36]
Chr16:16p11.2		 pathogenic|likely pathogenic|uncertain significance
GRCh38/hg38 16p11.2(chr16:29662635-30187279)x1 copy number loss See cases [RCV000054303] Chr16:29662635..30187279 [GRCh38]
Chr16:29673956..30198600 [GRCh37]
Chr16:29581457..30106101 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29844610-30187279)x1 copy number loss See cases [RCV000054314] Chr16:29844610..30187279 [GRCh38]
Chr16:29855931..30198600 [GRCh37]
Chr16:29763432..30106101 [NCBI36]
Chr16:16p11.2		 pathogenic
NM_007074.4(CORO1A):c.936C>T (p.Ser312=) single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV001493938] Chr16:30188016 [GRCh38]
Chr16:30199337 [GRCh37]
Chr16:16p11.2		 likely benign
GRCh38/hg38 16p11.2(chr16:29662633-30187279)x3 copy number gain See cases [RCV000054299] Chr16:29662633..30187279 [GRCh38]
Chr16:29673954..30198600 [GRCh37]
Chr16:29581455..30106101 [NCBI36]
Chr16:16p11.2		 likely pathogenic|uncertain significance
NM_007074.4(CORO1A):c.1078del (p.Gln360fs) deletion Severe combined immunodeficiency due to CORO1A deficiency [RCV000144854] Chr16:30188372 [GRCh38]
Chr16:30199693 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29645363-30185969)x1 copy number loss See cases [RCV000134450] Chr16:29645363..30185969 [GRCh38]
Chr16:29656684..30197290 [GRCh37]
Chr16:29564185..30104791 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29634999-30185969)x1 copy number loss See cases [RCV000134460] Chr16:29634999..30185969 [GRCh38]
Chr16:29646320..30197290 [GRCh37]
Chr16:29553821..30104791 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29909613-31438697)x3 copy number gain See cases [RCV000135339] Chr16:29909613..31438697 [GRCh38]
Chr16:29920934..31450018 [GRCh37]
Chr16:29828435..31357519 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29662633-30321260)x1 copy number loss See cases [RCV000135768] Chr16:29662633..30321260 [GRCh38]
Chr16:29673954..30332581 [GRCh37]
Chr16:29581455..30240082 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29581462-30691912)x1 copy number loss See cases [RCV000135589] Chr16:29581462..30691912 [GRCh38]
Chr16:29592783..30703233 [GRCh37]
Chr16:29500284..30610734 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29581462-30321260)x3 copy number gain See cases [RCV000135445] Chr16:29581462..30321260 [GRCh38]
Chr16:29592783..30332581 [GRCh37]
Chr16:29500284..30240082 [NCBI36]
Chr16:16p11.2		 pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 16p11.2(chr16:29662633-30186020)x1 copy number loss See cases [RCV000136137] Chr16:29662633..30186020 [GRCh38]
Chr16:29673954..30197341 [GRCh37]
Chr16:29581455..30104842 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29662646-30321248)x3 copy number gain See cases [RCV000135976] Chr16:29662646..30321248 [GRCh38]
Chr16:29673967..30332569 [GRCh37]
Chr16:29581468..30240070 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29466738-30320693)x3 copy number gain See cases [RCV000137516] Chr16:29466738..30320693 [GRCh38]
Chr16:29478059..30332014 [GRCh37]
Chr16:29385560..30239515 [NCBI36]
Chr16:16p11.2		 likely pathogenic|conflicting data from submitters
GRCh38/hg38 16p12.1-11.2(chr16:28392832-30186020)x1 copy number loss See cases [RCV000137580] Chr16:28392832..30186020 [GRCh38]
Chr16:28404153..30197341 [GRCh37]
Chr16:28311654..30104842 [NCBI36]
Chr16:16p12.1-11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29645363-30321270)x3 copy number gain See cases [RCV000137446] Chr16:29645363..30321270 [GRCh38]
Chr16:29656684..30332591 [GRCh37]
Chr16:29564185..30240092 [NCBI36]
Chr16:16p11.2		 likely pathogenic|conflicting data from submitters
GRCh38/hg38 16p11.2(chr16:29427948-30320693)x3 copy number gain See cases [RCV000137618] Chr16:29427948..30320693 [GRCh38]
Chr16:29439269..30332014 [GRCh37]
Chr16:29346770..30239515 [NCBI36]
Chr16:16p11.2		 likely pathogenic
GRCh38/hg38 16p11.2(chr16:29466738-30186020)x3 copy number gain See cases [RCV000138440] Chr16:29466738..30186020 [GRCh38]
Chr16:29478059..30197341 [GRCh37]
Chr16:29385560..30104842 [NCBI36]
Chr16:16p11.2		 likely pathogenic|conflicting data from submitters
GRCh38/hg38 16p11.2(chr16:29579233-30186020)x3 copy number gain See cases [RCV000138442] Chr16:29579233..30186020 [GRCh38]
Chr16:29590554..30197341 [GRCh37]
Chr16:29498055..30104842 [NCBI36]
Chr16:16p11.2		 pathogenic|likely pathogenic|conflicting data from submitters
GRCh38/hg38 16p11.2(chr16:29579233-30186020)x1 copy number loss See cases [RCV000138443] Chr16:29579233..30186020 [GRCh38]
Chr16:29590554..30197341 [GRCh37]
Chr16:29498055..30104842 [NCBI36]
Chr16:16p11.2		 pathogenic|conflicting data from submitters
GRCh38/hg38 16p11.2(chr16:29645363-30186020)x3 copy number gain See cases [RCV000138342] Chr16:29645363..30186020 [GRCh38]
Chr16:29656684..30197341 [GRCh37]
Chr16:29564185..30104842 [NCBI36]
Chr16:16p11.2		 likely pathogenic|conflicting data from submitters
GRCh38/hg38 16p11.2(chr16:29645363-30186020)x1 copy number loss See cases [RCV000138343] Chr16:29645363..30186020 [GRCh38]
Chr16:29656684..30197341 [GRCh37]
Chr16:29564185..30104842 [NCBI36]
Chr16:16p11.2		 pathogenic|conflicting data from submitters
GRCh38/hg38 16p11.2(chr16:29318115-30321248)x3 copy number gain See cases [RCV000138501] Chr16:29318115..30321248 [GRCh38]
Chr16:29329436..30332569 [GRCh37]
Chr16:29236937..30240070 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29579233-30320693)x3 copy number gain See cases [RCV000139248] Chr16:29579233..30320693 [GRCh38]
Chr16:29590554..30332014 [GRCh37]
Chr16:29498055..30239515 [NCBI36]
Chr16:16p11.2		 likely pathogenic
GRCh38/hg38 16p11.2(chr16:29579233-30320693)x1 copy number loss See cases [RCV000139249] Chr16:29579233..30320693 [GRCh38]
Chr16:29590554..30332014 [GRCh37]
Chr16:29498055..30239515 [NCBI36]
Chr16:16p11.2		 pathogenic|likely pathogenic
GRCh38/hg38 16p11.2(chr16:29466739-30321248)x3 copy number gain See cases [RCV000139095] Chr16:29466739..30321248 [GRCh38]
Chr16:29478060..30332569 [GRCh37]
Chr16:29385561..30240070 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29609368-30320693)x3 copy number gain See cases [RCV000139032] Chr16:29609368..30320693 [GRCh38]
Chr16:29620689..30332014 [GRCh37]
Chr16:29528190..30239515 [NCBI36]
Chr16:16p11.2		 likely pathogenic
GRCh38/hg38 16p12.1-11.2(chr16:28392832-30320693)x1 copy number loss See cases [RCV000139916] Chr16:28392832..30320693 [GRCh38]
Chr16:28404153..30332014 [GRCh37]
Chr16:28311654..30239515 [NCBI36]
Chr16:16p12.1-11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29555974-30308986)x1 copy number loss See cases [RCV000140452] Chr16:29555974..30308986 [GRCh38]
Chr16:29567295..30320307 [GRCh37]
Chr16:29474796..30227808 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29581462-30185969)x3 copy number gain See cases [RCV000140510] Chr16:29581462..30185969 [GRCh38]
Chr16:29592783..30197290 [GRCh37]
Chr16:29500284..30104791 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p12.1-11.2(chr16:27311746-31193406)x3 copy number gain See cases [RCV000140341] Chr16:27311746..31193406 [GRCh38]
Chr16:27323067..31204727 [GRCh37]
Chr16:27230568..31112228 [NCBI36]
Chr16:16p12.1-11.2		 pathogenic
GRCh38/hg38 16p12.2-11.2(chr16:23752047-31943755)x3 copy number gain See cases [RCV000141141] Chr16:23752047..31943755 [GRCh38]
Chr16:23763368..31955076 [GRCh37]
Chr16:23670869..31862577 [NCBI36]
Chr16:16p12.2-11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29427948-30186020)x1 copy number loss See cases [RCV000141285] Chr16:29427948..30186020 [GRCh38]
Chr16:29439269..30197341 [GRCh37]
Chr16:29346770..30104842 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29609368-30185969)x1 copy number loss See cases [RCV000141120] Chr16:29609368..30185969 [GRCh38]
Chr16:29620689..30197290 [GRCh37]
Chr16:29528190..30104791 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29555974-30215609)x1 copy number loss See cases [RCV000140887] Chr16:29555974..30215609 [GRCh38]
Chr16:29567295..30226930 [GRCh37]
Chr16:29474796..30134431 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29568699-30295634)x3 copy number gain See cases [RCV000141947] Chr16:29568699..30295634 [GRCh38]
Chr16:29580020..30306955 [GRCh37]
Chr16:29487521..30214456 [NCBI36]
Chr16:16p11.2		 likely pathogenic
GRCh38/hg38 16p11.2(chr16:29569779-30228906)x3 copy number gain See cases [RCV000141682] Chr16:29569779..30228906 [GRCh38]
Chr16:29581100..30240227 [GRCh37]
Chr16:29488601..30147728 [NCBI36]
Chr16:16p11.2		 likely pathogenic
GRCh38/hg38 16p11.2(chr16:29555974-30309999)x1 copy number loss See cases [RCV000141685] Chr16:29555974..30309999 [GRCh38]
Chr16:29567295..30321320 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29513831-30206791)x1 copy number loss See cases [RCV000142087] Chr16:29513831..30206791 [GRCh38]
Chr16:29525152..30218112 [GRCh37]
Chr16:29432653..30125613 [NCBI36]
Chr16:16p11.2		 uncertain significance
GRCh38/hg38 16p11.2(chr16:29682770-30186020)x3 copy number gain See cases [RCV000142875] Chr16:29682770..30186020 [GRCh38]
Chr16:29694091..30197341 [GRCh37]
Chr16:29601592..30104842 [NCBI36]
Chr16:16p11.2		 likely pathogenic
GRCh38/hg38 16p11.2(chr16:29581470-30321248)x3 copy number gain See cases [RCV000142929] Chr16:29581470..30321248 [GRCh38]
Chr16:29592791..30332569 [GRCh37]
Chr16:29500292..30240070 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29892937-30433124)x3 copy number gain See cases [RCV000143385] Chr16:29892937..30433124 [GRCh38]
Chr16:29904258..30444445 [GRCh37]
Chr16:29811759..30351946 [NCBI36]
Chr16:16p11.2		 pathogenic|likely benign
GRCh38/hg38 16p11.2(chr16:29568699-30228906)x3 copy number gain See cases [RCV000143431] Chr16:29568699..30228906 [GRCh38]
Chr16:29580020..30240227 [GRCh37]
Chr16:29487521..30147728 [NCBI36]
Chr16:16p11.2		 likely pathogenic
GRCh38/hg38 16p11.2(chr16:29579757-30228906)x3 copy number gain See cases [RCV000143364] Chr16:29579757..30228906 [GRCh38]
Chr16:29591078..30240227 [GRCh37]
Chr16:29498579..30147728 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29555974-30309999)x3 copy number gain See cases [RCV000143386] Chr16:29555974..30309999 [GRCh38]
Chr16:29567295..30321320 [GRCh37]
Chr16:29474796..30228821 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29581462-30321260)x1 copy number loss See cases [RCV000148288] Chr16:29581462..30321260 [GRCh38]
Chr16:29592783..30332581 [GRCh37]
Chr16:29500284..30240082 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29662633-30187279)x1 copy number loss See cases [RCV000148157] Chr16:29662633..30187279 [GRCh38]
Chr16:29673954..30198600 [GRCh37]
Chr16:29581455..30106101 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29662633-30321260)x3 copy number gain See cases [RCV000148123] Chr16:29662633..30321260 [GRCh38]
Chr16:29673954..30332581 [GRCh37]
Chr16:29581455..30240082 [NCBI36]
Chr16:16p11.2		 uncertain significance
GRCh37/hg19 16p11.2(chr16:29060171-30197341)x3 copy number gain See cases [RCV000240123] Chr16:29060171..30197341 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29060171-30195607)x3 copy number gain See cases [RCV000239797] Chr16:29060171..30195607 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29841933-30381027)x3 copy number gain Breast ductal adenocarcinoma [RCV000207131] Chr16:29841933..30381027 [GRCh37]
Chr16:16p11.2		 uncertain significance
GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3 copy number gain Breast ductal adenocarcinoma [RCV000207053] Chr16:1279324..31926800 [GRCh37]
Chr16:16p13.3-11.2		 uncertain significance
NM_007074.4(CORO1A):c.435C>G (p.Asn145Lys) single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV001963870] Chr16:30186929 [GRCh38]
Chr16:30198250 [GRCh37]
Chr16:16p11.2		 uncertain significance
Single allele deletion Spondylocostal dysostosis 5 [RCV000235056] Chr16:29651599..30199709 [GRCh37]
Chr16:16p11.2		 pathogenic
NC_000016.10:g.(?_29390980)_(30215610_?)dup duplication Autism spectrum disorder [RCV000208728] Chr16:29390980..30215610 [GRCh38]
Chr16:29402301..30226931 [GRCh37]
Chr16:16p11.2		 likely pathogenic
NM_007074.4(CORO1A):c.1247G>A (p.Arg416Lys) single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV000524832] Chr16:30188542 [GRCh38]
Chr16:30199863 [GRCh37]
Chr16:16p11.2		 uncertain significance
GRCh37/hg19 16p11.2(chr16:29412503-30215621)x1 copy number loss See cases [RCV000239420] Chr16:29412503..30215621 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29646320-30197341)x3 copy number gain See cases [RCV000240419] Chr16:29646320..30197341 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29656684-30197341)x3 copy number gain See cases [RCV000240533] Chr16:29656684..30197341 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29646320-30197341)x1 copy number loss See cases [RCV000240290] Chr16:29646320..30197341 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29656684-30197341)x1 copy number loss See cases [RCV000240312] Chr16:29656684..30197341 [GRCh37]
Chr16:16p11.2		 pathogenic
NC_000016.9:g.(?_30194730)_(30200398_?)dup duplication not specified [RCV002282888] Chr16:30194730..30200398 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_007074.4(CORO1A):c.1101C>T (p.Thr367=) single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV000550397] Chr16:30188396 [GRCh38]
Chr16:30199717 [GRCh37]
Chr16:16p11.2		 benign
NM_007074.4(CORO1A):c.347T>C (p.Leu116Pro) single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV000806337] Chr16:30186841 [GRCh38]
Chr16:30198162 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_007074.4(CORO1A):c.630C>T (p.Val210=) single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV000541954] Chr16:30187217 [GRCh38]
Chr16:30198538 [GRCh37]
Chr16:16p11.2		 likely benign
GRCh37/hg19 16p11.2(chr16:29646320-30197290)x3 copy number gain See cases [RCV000447343] Chr16:29646320..30197290 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:28486693-30197290)x1 copy number loss See cases [RCV000447001] Chr16:28486693..30197290 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3 copy number gain See cases [RCV000446684] Chr16:69193..90274381 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p11.2(chr16:29421694-30344958)x3 copy number gain See cases [RCV000446565] Chr16:29421694..30344958 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29597822-30240227)x3 copy number gain See cases [RCV000446189] Chr16:29597822..30240227 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_007074.4(CORO1A):c.1065+14G>A single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV001518286]|not specified [RCV000420627] Chr16:30188263 [GRCh38]
Chr16:30199584 [GRCh37]
Chr16:16p11.2		 benign
NM_007074.4(CORO1A):c.336A>G (p.Pro112=) single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV001523069]|not provided [RCV001808802]|not specified [RCV000429482] Chr16:30186830 [GRCh38]
Chr16:30198151 [GRCh37]
Chr16:16p11.2		 benign
NM_007074.4(CORO1A):c.804C>T (p.Ser268=) single nucleotide variant CORO1A-related condition [RCV003932593]|Severe combined immunodeficiency due to CORO1A deficiency [RCV000651708]|not provided [RCV001729589]|not specified [RCV000437319] Chr16:30187772 [GRCh38]
Chr16:30199093 [GRCh37]
Chr16:16p11.2		 benign|likely benign
GRCh37/hg19 16p11.2(chr16:29656684-30197290)x3 copy number gain See cases [RCV000445935] Chr16:29656684..30197290 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29432212-30332125)x3 copy number gain See cases [RCV000448891] Chr16:29432212..30332125 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29656684-30197290)x4 copy number gain See cases [RCV000448726] Chr16:29656684..30197290 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29432212-30226930)x1 copy number loss See cases [RCV000448182] Chr16:29432212..30226930 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29060171-30197290)x3 copy number gain See cases [RCV000448328] Chr16:29060171..30197290 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:28826162-29043901)x1 copy number loss See cases [RCV000448084] Chr16:28826162..29043901 [GRCh37]
Chr16:16p11.2		 likely pathogenic
GRCh37/hg19 16p11.2(chr16:29624765-30197290)x3 copy number gain See cases [RCV000448360] Chr16:29624765..30197290 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_007074.4(CORO1A):c.1189G>A (p.Val397Ile) single nucleotide variant CORO1A-related condition [RCV003962348]|Severe combined immunodeficiency due to CORO1A deficiency [RCV001086838]|not provided [RCV000486112]|not specified [RCV003330721] Chr16:30188484 [GRCh38]
Chr16:30199805 [GRCh37]
Chr16:16p11.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 16p11.2(chr16:29571473-30243606)x3 copy number gain See cases [RCV000512126] Chr16:29571473..30243606 [GRCh37]
Chr16:16p11.2		 likely pathogenic
GRCh37/hg19 16p11.2(chr16:29421662-30240227)x3 copy number gain See cases [RCV000510272] Chr16:29421662..30240227 [GRCh37]
Chr16:16p11.2		 likely pathogenic
GRCh37/hg19 16p11.2(chr16:29517698-30243606)x3 copy number gain See cases [RCV000510455] Chr16:29517698..30243606 [GRCh37]
Chr16:16p11.2		 likely pathogenic
GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3 copy number gain See cases [RCV000511622] Chr16:9273328..89548493 [GRCh37]
Chr16:16p13.2-q24.3		 uncertain significance
GRCh37/hg19 16p11.2(chr16:29567295-30243606)x1 copy number loss See cases [RCV000511706] Chr16:29567295..30243606 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29591078-30302348)x3 copy number gain See cases [RCV000511723] Chr16:29591078..30302348 [GRCh37]
Chr16:16p11.2		 likely pathogenic
GRCh37/hg19 16p11.2(chr16:29421694-30240227)x3 copy number gain See cases [RCV000511586] Chr16:29421694..30240227 [GRCh37]
Chr16:16p11.2		 likely pathogenic
NM_007074.4(CORO1A):c.969C>A (p.Pro323=) single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV000554553] Chr16:30188049 [GRCh38]
Chr16:30199370 [GRCh37]
Chr16:16p11.2		 likely benign
GRCh37/hg19 16p12.2-11.2(chr16:21596299-30399167)x1 copy number loss See cases [RCV000511271] Chr16:21596299..30399167 [GRCh37]
Chr16:16p12.2-11.2		 pathogenic
maternal UPD(16p) complex Hemimegalencephaly [RCV000494707] Chr16:1280042..33710558 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29656684-30197341) copy number gain Abnormality of the eye [RCV000626509] Chr16:29656684..30197341 [GRCh37]
Chr16:16p11.2		 likely pathogenic
NM_007074.4(CORO1A):c.1007+13C>T single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV001403882]|not specified [RCV000601787] Chr16:30188100 [GRCh38]
Chr16:30199421 [GRCh37]
Chr16:16p11.2		 likely benign
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3 copy number gain See cases [RCV000512138] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
NM_007074.4(CORO1A):c.1204C>T (p.Arg402Trp) single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV000651707] Chr16:30188499 [GRCh38]
Chr16:30199820 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_007074.4(CORO1A):c.1097C>A (p.Pro366His) single nucleotide variant CORO1A-related condition [RCV003928123]|Severe combined immunodeficiency due to CORO1A deficiency [RCV000651709]|not provided [RCV001729675] Chr16:30188392 [GRCh38]
Chr16:30199713 [GRCh37]
Chr16:16p11.2		 benign|likely benign
NM_007074.4(CORO1A):c.222G>A (p.Ala74=) single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV000651710] Chr16:30186621 [GRCh38]
Chr16:30197942 [GRCh37]
Chr16:16p11.2		 likely benign
NM_007074.4(CORO1A):c.792G>A (p.Leu264=) single nucleotide variant CORO1A-related condition [RCV003953186]|Severe combined immunodeficiency due to CORO1A deficiency [RCV000651711] Chr16:30187760 [GRCh38]
Chr16:30199081 [GRCh37]
Chr16:16p11.2		 likely benign
NC_000016.10:g.(?_30066878)_(30188596_?)del deletion Severe combined immunodeficiency due to CORO1A deficiency [RCV000651712] Chr16:30066878..30188596 [GRCh38]
Chr16:30078199..30199917 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_007074.4(CORO1A):c.1368G>A (p.Glu456=) single nucleotide variant not specified [RCV000616207] Chr16:30188946 [GRCh38]
Chr16:30200267 [GRCh37]
Chr16:16p11.2		 likely benign
NM_007074.4(CORO1A):c.1065+9C>T single nucleotide variant CORO1A-related condition [RCV003945309]|Severe combined immunodeficiency due to CORO1A deficiency [RCV000537763] Chr16:30188258 [GRCh38]
Chr16:30199579 [GRCh37]
Chr16:16p11.2		 benign
NM_007074.4(CORO1A):c.843C>T (p.Ile281=) single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV000960612]|not specified [RCV000602214] Chr16:30187811 [GRCh38]
Chr16:30199132 [GRCh37]
Chr16:16p11.2		 benign|likely benign
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062) copy number gain See cases [RCV000511296] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p11.2(chr16:29571474-30243606)x3 copy number gain See cases [RCV000512481] Chr16:29571474..30243606 [GRCh37]
Chr16:16p11.2		 likely pathogenic
GRCh37/hg19 16p11.2(chr16:29351826-30332071)x1 copy number loss not provided [RCV000683806] Chr16:29351826..30332071 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29591078-30243606)x3 copy number gain not provided [RCV000683815] Chr16:29591078..30243606 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29432212-30339520)x1 copy number loss not provided [RCV000683809] Chr16:29432212..30339520 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29567295-30240227)x3 copy number gain not provided [RCV000683811] Chr16:29567295..30240227 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29567295-30344958)x1 copy number loss not provided [RCV000683812] Chr16:29567295..30344958 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29652999-30197341)x1 copy number loss not provided [RCV000683817] Chr16:29652999..30197341 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_007074.4(CORO1A):c.670G>A (p.Val224Met) single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV000698033] Chr16:30187415 [GRCh38]
Chr16:30198736 [GRCh37]
Chr16:16p11.2		 uncertain significance
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90274695)x3 copy number gain not provided [RCV000738918] Chr16:88165..90274695 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:61451-90294632)x3 copy number gain not provided [RCV000738915] Chr16:61451..90294632 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90163275)x3 copy number gain not provided [RCV000738917] Chr16:88165..90163275 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
Single allele duplication Schizophrenia [RCV000754184] Chr16:29480853..30254620 [GRCh38]
Chr16:16p11.2		 pathogenic
Single allele duplication Schizophrenia [RCV000754186] Chr16:29614026..30184960 [GRCh38]
Chr16:16p11.2		 pathogenic
NC_000016.10:g.(?_29627836)_(30184960_?)del deletion Schizophrenia [RCV000754187] Chr16:29627836..30184960 [GRCh38]
Chr16:16p11.2		 pathogenic
Single allele duplication Schizophrenia [RCV000754188] Chr16:29627836..30184960 [GRCh38]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29501094-30198151)x3 copy number gain not provided [RCV000739116] Chr16:29501094..30198151 [GRCh37]
Chr16:16p11.2		 likely benign
GRCh37/hg19 16p11.2(chr16:29589153-30198151)x3 copy number gain not provided [RCV000739117] Chr16:29589153..30198151 [GRCh37]
Chr16:16p11.2		 uncertain significance
Single allele duplication Autism [RCV000754182] Chr16:29401125..30312960 [GRCh38]
Chr16:16p11.2		 pathogenic
NC_000016.10:g.(?_29480853)_(30254620_?)del deletion Autism [RCV000754183] Chr16:29480853..30254620 [GRCh38]
Chr16:16p11.2		 pathogenic
Single allele duplication Autism [RCV000754185] Chr16:29553914..30184960 [GRCh38]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29595483-30198151)x3 copy number gain not provided [RCV000739119] Chr16:29595483..30198151 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29640910-30198319)x3 copy number gain not provided [RCV000739120] Chr16:29640910..30198319 [GRCh37]
Chr16:16p11.2		 uncertain significance
Single allele duplication Autism [RCV000754189] Chr16:29640511..30184960 [GRCh38]
Chr16:16p11.2		 pathogenic
16p11.2 recurrent region (BP4-BP5) deletion Proximal 16p11.2 microdeletion syndrome [RCV000034307] Chr16:29638676..30188531 [GRCh38]
Chr16:29649997..30199852 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_007074.4(CORO1A):c.636+9C>T single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV001406536] Chr16:30187232 [GRCh38]
Chr16:30198553 [GRCh37]
Chr16:16p11.2		 likely benign
NM_007074.4(CORO1A):c.1074G>C (p.Leu358=) single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV000917919] Chr16:30188369 [GRCh38]
Chr16:30199690 [GRCh37]
Chr16:16p11.2		 likely benign
GRCh37/hg19 16p11.2(chr16:29675050-30218384)x1 copy number loss not provided [RCV003312363] Chr16:29675050..30218384 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_007074.4(CORO1A):c.462C>T (p.Asn154=) single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV000904127] Chr16:30187049 [GRCh38]
Chr16:30198370 [GRCh37]
Chr16:16p11.2		 likely benign
NM_007074.4(CORO1A):c.837C>T (p.Thr279=) single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV000882338] Chr16:30187805 [GRCh38]
Chr16:30199126 [GRCh37]
Chr16:16p11.2		 likely benign
NM_007074.4(CORO1A):c.840C>T (p.Asn280=) single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV000972280] Chr16:30187808 [GRCh38]
Chr16:30199129 [GRCh37]
Chr16:16p11.2		 likely benign
NM_007074.4(CORO1A):c.480C>T (p.Asp160=) single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV001408723] Chr16:30187067 [GRCh38]
Chr16:30198388 [GRCh37]
Chr16:16p11.2		 likely benign
NM_007074.4(CORO1A):c.372C>T (p.Val124=) single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV000884332] Chr16:30186866 [GRCh38]
Chr16:30198187 [GRCh37]
Chr16:16p11.2		 likely benign
NM_007074.4(CORO1A):c.54G>C (p.Pro18=) single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV000945271] Chr16:30185263 [GRCh38]
Chr16:30196584 [GRCh37]
Chr16:16p11.2		 likely benign
NM_007074.4(CORO1A):c.346C>T (p.Leu116=) single nucleotide variant CORO1A-related condition [RCV003943177]|Severe combined immunodeficiency due to CORO1A deficiency [RCV000968635] Chr16:30186840 [GRCh38]
Chr16:30198161 [GRCh37]
Chr16:16p11.2		 likely benign
NM_007074.4(CORO1A):c.1173C>T (p.Ser391=) single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV000981371] Chr16:30188468 [GRCh38]
Chr16:30199789 [GRCh37]
Chr16:16p11.2		 likely benign
GRCh37/hg19 16p11.2(chr16:29532264-30271237) copy number gain Chromosome 16p11.2 duplication syndrome [RCV000767611] Chr16:29532264..30271237 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29673203-30199713) copy number loss Proximal 16p11.2 microdeletion syndrome [RCV000767696] Chr16:29673203..30199713 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_007074.4(CORO1A):c.844G>C (p.Val282Leu) single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV001070573] Chr16:30187812 [GRCh38]
Chr16:30199133 [GRCh37]
Chr16:16p11.2		 uncertain significance
GRCh37/hg19 16p11.2(chr16:29674336-30198123)x1 copy number loss Proximal 16p11.2 microdeletion syndrome [RCV000856638] Chr16:29674336..30198123 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29595483-30199713) copy number gain Chromosome 16p11.2 duplication syndrome [RCV000767612] Chr16:29595483..30199713 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29678569-30199578) copy number gain Chromosome 16p11.2 duplication syndrome [RCV000767615] Chr16:29678569..30199578 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29827174-30198041) copy number gain Chromosome 16p11.2 duplication syndrome [RCV000767618] Chr16:29827174..30198041 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_007074.4(CORO1A):c.228G>A (p.Thr76=) single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV002065540] Chr16:30186627 [GRCh38]
Chr16:30197948 [GRCh37]
Chr16:16p11.2		 likely benign
NM_007074.4(CORO1A):c.696G>A (p.Gly232=) single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV001501048] Chr16:30187441 [GRCh38]
Chr16:30198762 [GRCh37]
Chr16:16p11.2		 likely benign
NM_007074.4(CORO1A):c.597C>T (p.Arg199=) single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV002066120] Chr16:30187184 [GRCh38]
Chr16:30198505 [GRCh37]
Chr16:16p11.2		 likely benign
NM_007074.4(CORO1A):c.774G>A (p.Pro258=) single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV002065965] Chr16:30187742 [GRCh38]
Chr16:30199063 [GRCh37]
Chr16:16p11.2		 likely benign
NM_007074.4(CORO1A):c.333C>A (p.Ile111=) single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV002540982] Chr16:30186827 [GRCh38]
Chr16:30198148 [GRCh37]
Chr16:16p11.2		 likely benign
NM_007074.4(CORO1A):c.1161C>G (p.Pro387=) single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV001433729] Chr16:30188456 [GRCh38]
Chr16:30199777 [GRCh37]
Chr16:16p11.2		 likely benign
NM_007074.4(CORO1A):c.322-4G>A single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV000899422] Chr16:30186812 [GRCh38]
Chr16:30198133 [GRCh37]
Chr16:16p11.2		 likely benign
GRCh37/hg19 16p11.2(chr16:29042050-30199025) copy number loss Proximal 16p11.2 microdeletion syndrome [RCV000767610] Chr16:29042050..30199025 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29678569-30199402) copy number loss Proximal 16p11.2 microdeletion syndrome [RCV000767614] Chr16:29678569..30199402 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_007074.4(CORO1A):c.1002C>T (p.Ile334=) single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV000939351] Chr16:30188082 [GRCh38]
Chr16:30199403 [GRCh37]
Chr16:16p11.2		 likely benign
GRCh37/hg19 16p11.2(chr16:29595483-30199713) copy number loss Proximal 16p11.2 microdeletion syndrome [RCV000767658] Chr16:29595483..30199713 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_007074.4(CORO1A):c.674_677del (p.Arg225fs) microsatellite Severe combined immunodeficiency due to CORO1A deficiency [RCV000820807] Chr16:30187414..30187417 [GRCh38]
Chr16:30198735..30198738 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29674336-30199351)x1 copy number loss Proximal 16p11.2 microdeletion syndrome [RCV000856637] Chr16:29674336..30199351 [GRCh37]
Chr16:16p11.2		 pathogenic
NC_000016.10:g.(?_30066878)_(30188984_?)del deletion Severe combined immunodeficiency due to CORO1A deficiency [RCV000815913] Chr16:30066878..30188984 [GRCh38]
Chr16:30078199..30200305 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_007074.4(CORO1A):c.520G>A (p.Val174Met) single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV000800378] Chr16:30187107 [GRCh38]
Chr16:30198428 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_007074.4(CORO1A):c.1252G>A (p.Ala418Thr) single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV000793097] Chr16:30188547 [GRCh38]
Chr16:30199868 [GRCh37]
Chr16:16p11.2		 uncertain significance
NC_000016.9:g.(?_30078199)_(30200305_?)dup duplication Severe combined immunodeficiency due to CORO1A deficiency [RCV000808632] Chr16:30066878..30188984 [GRCh38]
Chr16:30078199..30200305 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_007074.4(CORO1A):c.764T>C (p.Leu255Pro) single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV000802621] Chr16:30187732 [GRCh38]
Chr16:30199053 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_007074.4(CORO1A):c.616C>T (p.Arg206Cys) single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV000810583] Chr16:30187203 [GRCh38]
Chr16:30198524 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_007074.4(CORO1A):c.362G>A (p.Arg121Gln) single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV000806671] Chr16:30186856 [GRCh38]
Chr16:30198177 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_007074.4(CORO1A):c.1280C>T (p.Ser427Leu) single nucleotide variant Inborn genetic diseases [RCV003372861]|Severe combined immunodeficiency due to CORO1A deficiency [RCV000807872] Chr16:30188575 [GRCh38]
Chr16:30199896 [GRCh37]
Chr16:16p11.2		 uncertain significance
GRCh37/hg19 16p11.2(chr16:29595483-30198151)x1 copy number loss See cases [RCV000790564] Chr16:29595483..30198151 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_007074.4(CORO1A):c.711G>A (p.Thr237=) single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV003824984] Chr16:30187456 [GRCh38]
Chr16:30198777 [GRCh37]
Chr16:16p11.2		 likely benign
Single allele deletion Proximal 16p11.2 microdeletion syndrome [RCV001250752] Chr16:29446604..30218886 [GRCh37]
Chr16:16p11.2		 risk factor
NM_007074.4(CORO1A):c.276C>A (p.His92Gln) single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV001046108] Chr16:30186675 [GRCh38]
Chr16:30197996 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_007074.4(CORO1A):c.868A>T (p.Ser290Cys) single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV001221083] Chr16:30187948 [GRCh38]
Chr16:30199269 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_007074.4(CORO1A):c.286G>A (p.Val96Ile) single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV001239820] Chr16:30186685 [GRCh38]
Chr16:30198006 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_007074.4(CORO1A):c.595C>T (p.Arg199Cys) single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV001201428] Chr16:30187182 [GRCh38]
Chr16:30198503 [GRCh37]
Chr16:16p11.2		 uncertain significance
GRCh37/hg19 16p11.2(chr16:29495011-30206548) copy number loss Infantile convulsions and choreoathetosis [RCV003236744] Chr16:29495011..30206548 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29675050-30218221)x1 copy number loss not provided [RCV001532339] Chr16:29675050..30218221 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_007074.4(CORO1A):c.738G>A (p.Gln246=) single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV000955213]|not provided [RCV001702072] Chr16:30187483 [GRCh38]
Chr16:30198804 [GRCh37]
Chr16:16p11.2		 benign|likely benign
NM_007074.4(CORO1A):c.451+8G>A single nucleotide variant CORO1A-related condition [RCV003953344]|Severe combined immunodeficiency due to CORO1A deficiency [RCV000974803] Chr16:30186953 [GRCh38]
Chr16:30198274 [GRCh37]
Chr16:16p11.2		 benign|likely benign
NM_007074.4(CORO1A):c.452-7C>T single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV000936863] Chr16:30187032 [GRCh38]
Chr16:30198353 [GRCh37]
Chr16:16p11.2		 likely benign
NM_007074.4(CORO1A):c.1146T>C (p.Gly382=) single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV000960613]|not provided [RCV001699481]|not specified [RCV001726393] Chr16:30188441 [GRCh38]
Chr16:30199762 [GRCh37]
Chr16:16p11.2		 benign|likely benign
NM_007074.4(CORO1A):c.757-10G>C single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV000930159] Chr16:30187715 [GRCh38]
Chr16:30199036 [GRCh37]
Chr16:16p11.2		 likely benign
NM_007074.4(CORO1A):c.931A>G (p.Ser311Gly) single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV001219864] Chr16:30188011 [GRCh38]
Chr16:30199332 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_007074.4(CORO1A):c.500T>C (p.Met167Thr) single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV001051520] Chr16:30187087 [GRCh38]
Chr16:30198408 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_007074.4(CORO1A):c.1237G>A (p.Gly413Arg) single nucleotide variant Inborn genetic diseases [RCV003259173]|Severe combined immunodeficiency due to CORO1A deficiency [RCV001225523]|not specified [RCV003479297] Chr16:30188532 [GRCh38]
Chr16:30199853 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_007074.4(CORO1A):c.435C>T (p.Asn145=) single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV001494825] Chr16:30186929 [GRCh38]
Chr16:30198250 [GRCh37]
Chr16:16p11.2		 likely benign
NM_007074.4(CORO1A):c.87C>T (p.Arg29=) single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV000889852] Chr16:30185296 [GRCh38]
Chr16:30196617 [GRCh37]
Chr16:16p11.2		 likely benign
NM_007074.4(CORO1A):c.1204C>A (p.Arg402=) single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV002068687] Chr16:30188499 [GRCh38]
Chr16:30199820 [GRCh37]
Chr16:16p11.2		 likely benign
GRCh37/hg19 16p11.2(chr16:28466731-30321320)x1 copy number loss not provided [RCV002472634] Chr16:28466731..30321320 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29622758-30240227)x3 copy number gain not provided [RCV002472648] Chr16:29622758..30240227 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29675050-30200008)x1 copy number loss not provided [RCV001532338] Chr16:29675050..30200008 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29615859-30199454)x1 copy number loss not provided [RCV001537891] Chr16:29615859..30199454 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_007074.4(CORO1A):c.451+7C>T single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV001027778] Chr16:30186952 [GRCh38]
Chr16:30198273 [GRCh37]
Chr16:16p11.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_007074.4(CORO1A):c.1141G>A (p.Gly381Arg) single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV001035763] Chr16:30188436 [GRCh38]
Chr16:30199757 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_007074.4(CORO1A):c.370G>A (p.Val124Ile) single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV001208801] Chr16:30186864 [GRCh38]
Chr16:30198185 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_007074.4(CORO1A):c.1154C>T (p.Ala385Val) single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV001214819] Chr16:30188449 [GRCh38]
Chr16:30199770 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_007074.4(CORO1A):c.685G>C (p.Val229Leu) single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV001220293] Chr16:30187430 [GRCh38]
Chr16:30198751 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_007074.4(CORO1A):c.339T>G (p.Asp113Glu) single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV001052088] Chr16:30186833 [GRCh38]
Chr16:30198154 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_007074.4(CORO1A):c.373G>T (p.Val125Phe) single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV001052089] Chr16:30186867 [GRCh38]
Chr16:30198188 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_007074.4(CORO1A):c.689C>T (p.Ser230Leu) single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV001203368] Chr16:30187434 [GRCh38]
Chr16:30198755 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_007074.4(CORO1A):c.460_462del (p.Asn154del) deletion Severe combined immunodeficiency due to CORO1A deficiency [RCV001054871] Chr16:30187045..30187047 [GRCh38]
Chr16:30198366..30198368 [GRCh37]
Chr16:16p11.2		 uncertain significance
GRCh37/hg19 16p11.2(chr16:29595483-30215621)x1 copy number loss See cases [RCV001194595] Chr16:29595483..30215621 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_007074.4(CORO1A):c.1142G>C (p.Gly381Ala) single nucleotide variant not provided [RCV003480176] Chr16:30188437 [GRCh38]
Chr16:30199758 [GRCh37]
Chr16:16p11.2		 uncertain significance
GRCh37/hg19 16p13.3-11.2(chr16:5805001-34230001) copy number gain Microcephaly [RCV001252948] Chr16:5805001..34230001 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29448001-30302100) copy number gain See cases [RCV001263033] Chr16:29448001..30302100 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_007074.4(CORO1A):c.23C>T (p.Ser8Phe) single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV001313582] Chr16:30185232 [GRCh38]
Chr16:30196553 [GRCh37]
Chr16:16p11.2		 uncertain significance
Single allele deletion Chromosome 16p11.2 duplication syndrome [RCV002280356] Chr16:29663598..30188229 [GRCh38]
Chr16:16p11.2		 pathogenic
NM_007074.4(CORO1A):c.974G>A (p.Arg325His) single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV001312440] Chr16:30188054 [GRCh38]
Chr16:30199375 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_007074.4(CORO1A):c.580T>A (p.Ser194Thr) single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV001298614] Chr16:30187167 [GRCh38]
Chr16:30198488 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_007074.4(CORO1A):c.272C>T (p.Pro91Leu) single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV001361456] Chr16:30186671 [GRCh38]
Chr16:30197992 [GRCh37]
Chr16:16p11.2		 uncertain significance
GRCh37/hg19 16p11.2(chr16:29443322-30320321)x3 copy number gain not provided [RCV001281364] Chr16:29443322..30320321 [GRCh37]
Chr16:16p11.2		 pathogenic
NC_000016.9:g.(?_29802081)_(30200285_?)dup duplication Episodic kinesigenic dyskinesia [RCV001325791] Chr16:29802081..30200285 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_007074.4(CORO1A):c.557G>A (p.Arg186Gln) single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV001294523] Chr16:30187144 [GRCh38]
Chr16:30198465 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_007074.4(CORO1A):c.877C>T (p.Arg293Trp) single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV001373560] Chr16:30187957 [GRCh38]
Chr16:30199278 [GRCh37]
Chr16:16p11.2		 uncertain significance
NC_000016.9:g.(?_29802081)_(30199917_?)dup duplication Episodic kinesigenic dyskinesia [RCV003120586]|HNSHA due to aldolase A deficiency [RCV001373865]|Severe combined immunodeficiency due to CORO1A deficiency [RCV001865862] Chr16:29802081..30199917 [GRCh37]
Chr16:16p11.2		 uncertain significance
NC_000016.9:g.(?_29802081)_(30199917_?)del deletion Episodic kinesigenic dyskinesia [RCV003120582]|HNSHA due to aldolase A deficiency [RCV001865861]|Severe combined immunodeficiency due to CORO1A deficiency [RCV001388031]|not provided [RCV001362947] Chr16:29802081..30199917 [GRCh37]
Chr16:16p11.2		 pathogenic|uncertain significance|no classifications from unflagged records
GRCh37/hg19 16p11.2(chr16:29652999-30198600) copy number loss Abnormal fetal cardiovascular morphology [RCV001291971] Chr16:29652999..30198600 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29673954-30198600) copy number gain Autism [RCV001291991] Chr16:29673954..30198600 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29652999-30197341) copy number gain Severe sensorineural hearing impairment [RCV001291951] Chr16:29652999..30197341 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_007074.4(CORO1A):c.237C>T (p.Gly79=) single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV001413553] Chr16:30186636 [GRCh38]
Chr16:30197957 [GRCh37]
Chr16:16p11.2		 likely benign
NM_007074.4(CORO1A):c.636+3G>C single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV001326909] Chr16:30187226 [GRCh38]
Chr16:30198547 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_007074.4(CORO1A):c.1281G>A (p.Ser427=) single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV001297782] Chr16:30188576 [GRCh38]
Chr16:30199897 [GRCh37]
Chr16:16p11.2		 uncertain significance
Single allele deletion Proximal 16p11.2 microdeletion syndrome [RCV001391671] Chr16:29675044..30212202 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_007074.4(CORO1A):c.973C>T (p.Arg325Cys) single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV001304251] Chr16:30188053 [GRCh38]
Chr16:30199374 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_007074.4(CORO1A):c.1222C>T (p.Arg408Trp) single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV001324592] Chr16:30188517 [GRCh38]
Chr16:30199838 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_007074.4(CORO1A):c.452-6G>A single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV001479267] Chr16:30187033 [GRCh38]
Chr16:30198354 [GRCh37]
Chr16:16p11.2		 likely benign
NM_007074.4(CORO1A):c.862-15A>C single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV001484548] Chr16:30187927 [GRCh38]
Chr16:30199248 [GRCh37]
Chr16:16p11.2		 likely benign
NM_007074.4(CORO1A):c.369C>T (p.Pro123=) single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV001466241] Chr16:30186863 [GRCh38]
Chr16:30198184 [GRCh37]
Chr16:16p11.2		 likely benign
NM_007074.4(CORO1A):c.199-10G>A single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV001416054] Chr16:30186588 [GRCh38]
Chr16:30197909 [GRCh37]
Chr16:16p11.2		 likely benign
NM_007074.4(CORO1A):c.57C>T (p.Ala19=) single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV001409389] Chr16:30185266 [GRCh38]
Chr16:30196587 [GRCh37]
Chr16:16p11.2		 likely benign
NM_007074.4(CORO1A):c.720C>T (p.Ser240=) single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV001417491] Chr16:30187465 [GRCh38]
Chr16:30198786 [GRCh37]
Chr16:16p11.2		 likely benign
NM_007074.4(CORO1A):c.1066-7C>T single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV001444042] Chr16:30188354 [GRCh38]
Chr16:30199675 [GRCh37]
Chr16:16p11.2		 likely benign
NM_007074.4(CORO1A):c.1066-8G>C single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV001407425] Chr16:30188353 [GRCh38]
Chr16:30199674 [GRCh37]
Chr16:16p11.2		 likely benign
NC_000016.9:g.(?_30196531)_30199897del deletion Severe combined immunodeficiency due to CORO1A deficiency [RCV001388032]   pathogenic
NM_007074.4(CORO1A):c.42G>C (p.Val14=) single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV001403828] Chr16:30185251 [GRCh38]
Chr16:30196572 [GRCh37]
Chr16:16p11.2		 likely benign
NM_007074.4(CORO1A):c.654C>T (p.His218=) single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV001415878] Chr16:30187399 [GRCh38]
Chr16:30198720 [GRCh37]
Chr16:16p11.2		 likely benign
NM_007074.4(CORO1A):c.781C>T (p.Leu261=) single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV001439695] Chr16:30187749 [GRCh38]
Chr16:30199070 [GRCh37]
Chr16:16p11.2		 likely benign
NM_007074.4(CORO1A):c.285C>T (p.Asn95=) single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV001443281] Chr16:30186684 [GRCh38]
Chr16:30198005 [GRCh37]
Chr16:16p11.2		 likely benign
NM_007074.4(CORO1A):c.1188C>T (p.Tyr396=) single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV001428525] Chr16:30188483 [GRCh38]
Chr16:30199804 [GRCh37]
Chr16:16p11.2		 likely benign
NM_007074.4(CORO1A):c.897C>T (p.Ser299=) single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV001519961] Chr16:30187977 [GRCh38]
Chr16:30199298 [GRCh37]
Chr16:16p11.2		 benign
NM_007074.4(CORO1A):c.54G>A (p.Pro18=) single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV001458237] Chr16:30185263 [GRCh38]
Chr16:30196584 [GRCh37]
Chr16:16p11.2		 likely benign
NM_007074.4(CORO1A):c.1007+9C>A single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV001473835] Chr16:30188096 [GRCh38]
Chr16:30199417 [GRCh37]
Chr16:16p11.2		 likely benign
NM_007074.4(CORO1A):c.273G>T (p.Pro91=) single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV001476256] Chr16:30186672 [GRCh38]
Chr16:30197993 [GRCh37]
Chr16:16p11.2		 likely benign
GRCh37/hg19 16p11.2(chr16:29545794-30307472)x1 copy number loss See cases [RCV001526481] Chr16:29545794..30307472 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_007074.4(CORO1A):c.546G>A (p.Val182=) single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV001486002] Chr16:30187133 [GRCh38]
Chr16:30198454 [GRCh37]
Chr16:16p11.2		 likely benign
NC_000016.9:g.(?_29802081)_(30200285_?)del deletion Episodic kinesigenic dyskinesia [RCV001388947] Chr16:29802081..30200285 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_007074.4(CORO1A):c.996T>C (p.Cys332=) single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV001402146] Chr16:30188076 [GRCh38]
Chr16:30199397 [GRCh37]
Chr16:16p11.2		 likely benign
NM_007074.4(CORO1A):c.1236C>T (p.Thr412=) single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV001456192] Chr16:30188531 [GRCh38]
Chr16:30199852 [GRCh37]
Chr16:16p11.2		 likely benign
NM_007074.4(CORO1A):c.1007+1G>A single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV001379004] Chr16:30188088 [GRCh38]
Chr16:30199409 [GRCh37]
Chr16:16p11.2		 likely pathogenic
NM_007074.4(CORO1A):c.1065+8T>A single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV001418047] Chr16:30188257 [GRCh38]
Chr16:30199578 [GRCh37]
Chr16:16p11.2		 likely benign
NM_007074.4(CORO1A):c.747G>A (p.Leu249=) single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV001426071] Chr16:30187492 [GRCh38]
Chr16:30198813 [GRCh37]
Chr16:16p11.2		 likely benign
NM_007074.4(CORO1A):c.636+8G>A single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV001485350] Chr16:30187231 [GRCh38]
Chr16:30198552 [GRCh37]
Chr16:16p11.2		 likely benign
GRCh37/hg19 16p11.2(chr16:29675000-30199844)x1 copy number loss Distal 16p11.2 microdeletion syndrome [RCV001801175] Chr16:29675000..30199844 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29511270-30200335)x1 copy number loss Distal 16p11.2 microdeletion syndrome [RCV001801183] Chr16:29511270..30200335 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29675000-30200058)x3 copy number gain 16p11.2p12.2 microduplication syndrome [RCV001801208] Chr16:29675000..30200058 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29590554-30197341)x3 copy number gain 16p11.2 duplication syndrome [RCV001801338] Chr16:29590554..30197341 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29675000-30200335)x3 copy number gain Distal 16p11.2 microdeletion syndrome [RCV001801225] Chr16:29675000..30200335 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29606372-30199622)x1 copy number loss not provided [RCV001795548] Chr16:29606372..30199622 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29974415-30596982)x1 copy number loss Distal 16p11.2 microdeletion syndrome [RCV001801174] Chr16:29974415..30596982 [GRCh37]
Chr16:16p11.2		 likely pathogenic
GRCh37/hg19 16p11.2(chr16:29464904-30233799)x3 copy number gain Distal 16p11.2 microdeletion syndrome [RCV001801184] Chr16:29464904..30233799 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29511270-30199844)x1 copy number loss Distal 16p11.2 microdeletion syndrome [RCV001801199] Chr16:29511270..30199844 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29808153-30750270)x3 copy number gain Chromosome 16p11.2 duplication syndrome [RCV001801218] Chr16:29808153..30750270 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_007074.4(CORO1A):c.365A>G (p.Glu122Gly) single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV002024746] Chr16:30186859 [GRCh38]
Chr16:30198180 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_007074.4(CORO1A):c.1102G>T (p.Ala368Ser) single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV001948105] Chr16:30188397 [GRCh38]
Chr16:30199718 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_007074.4(CORO1A):c.321+14G>A single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV001986446] Chr16:30186734 [GRCh38]
Chr16:30198055 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_007074.4(CORO1A):c.649C>A (p.Pro217Thr) single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV001969776] Chr16:30187394 [GRCh38]
Chr16:30198715 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_007074.4(CORO1A):c.227C>T (p.Thr76Met) single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV002024797] Chr16:30186626 [GRCh38]
Chr16:30197947 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_007074.4(CORO1A):c.263C>G (p.Ala88Gly) single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV001968149] Chr16:30186662 [GRCh38]
Chr16:30197983 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_007074.4(CORO1A):c.436G>A (p.Val146Met) single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV001908452] Chr16:30186930 [GRCh38]
Chr16:30198251 [GRCh37]
Chr16:16p11.2		 uncertain significance
GRCh37/hg19 16p11.2(chr16:29567295-30320307)x1 copy number loss Chromosome 16p11.2 duplication syndrome [RCV001825333] Chr16:29567295..30320307 [GRCh37]
Chr16:16p11.2		 not provided
NM_007074.4(CORO1A):c.1192C>T (p.Pro398Ser) single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV002022391] Chr16:30188487 [GRCh38]
Chr16:30199808 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_007074.4(CORO1A):c.861+16G>A single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV002040997] Chr16:30187845 [GRCh38]
Chr16:30199166 [GRCh37]
Chr16:16p11.2		 likely benign|uncertain significance
NM_007074.4(CORO1A):c.1214G>T (p.Arg405Met) single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV001913082] Chr16:30188509 [GRCh38]
Chr16:30199830 [GRCh37]
Chr16:16p11.2		 uncertain significance
GRCh37/hg19 16p11.2(chr16:29678569-30198121)x1 copy number loss not provided [RCV001825159] Chr16:29678569..30198121 [GRCh37]
Chr16:16p11.2		 not provided
NM_007074.4(CORO1A):c.773C>T (p.Pro258Leu) single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV002026962] Chr16:30187741 [GRCh38]
Chr16:30199062 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_007074.4(CORO1A):c.259A>G (p.Ile87Val) single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV001906881] Chr16:30186658 [GRCh38]
Chr16:30197979 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_007074.4(CORO1A):c.128A>G (p.Asn43Ser) single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV001886966] Chr16:30185337 [GRCh38]
Chr16:30196658 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_007074.4(CORO1A):c.463G>A (p.Val155Met) single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV001942529] Chr16:30187050 [GRCh38]
Chr16:30198371 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_007074.4(CORO1A):c.367C>A (p.Pro123Thr) single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV001885686] Chr16:30186861 [GRCh38]
Chr16:30198182 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_007074.4(CORO1A):c.1066-3_1066-2del microsatellite Severe combined immunodeficiency due to CORO1A deficiency [RCV001902938] Chr16:30188356..30188357 [GRCh38]
Chr16:30199677..30199678 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_007074.4(CORO1A):c.958G>A (p.Gly320Ser) single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV001943638] Chr16:30188038 [GRCh38]
Chr16:30199359 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_007074.4(CORO1A):c.314_315del (p.Thr105fs) microsatellite Autism spectrum disorder [RCV003126043]|Severe combined immunodeficiency due to CORO1A deficiency [RCV002037647] Chr16:30186711..30186712 [GRCh38]
Chr16:30198032..30198033 [GRCh37]
Chr16:16p11.2		 pathogenic|uncertain significance
NM_007074.4(CORO1A):c.1065+2T>C single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV001993998] Chr16:30188251 [GRCh38]
Chr16:30199572 [GRCh37]
Chr16:16p11.2		 likely pathogenic
NM_007074.4(CORO1A):c.1085A>T (p.Asp362Val) single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV001877803] Chr16:30188380 [GRCh38]
Chr16:30199701 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_007074.4(CORO1A):c.1066-10T>A single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV001955232] Chr16:30188351 [GRCh38]
Chr16:30199672 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_007074.4(CORO1A):c.855_856del (p.Cys285fs) microsatellite Severe combined immunodeficiency due to CORO1A deficiency [RCV001897325] Chr16:30187821..30187822 [GRCh38]
Chr16:30199142..30199143 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_007074.4(CORO1A):c.596G>A (p.Arg199His) single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV001957454] Chr16:30187183 [GRCh38]
Chr16:30198504 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_007074.4(CORO1A):c.637G>A (p.Glu213Lys) single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV001993619] Chr16:30187382 [GRCh38]
Chr16:30198703 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_007074.4(CORO1A):c.514C>G (p.Pro172Ala) single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV001925074] Chr16:30187101 [GRCh38]
Chr16:30198422 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_007074.4(CORO1A):c.205C>T (p.Arg69Cys) single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV001997490] Chr16:30186604 [GRCh38]
Chr16:30197925 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_007074.4(CORO1A):c.673C>T (p.Arg225Cys) single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV001997840] Chr16:30187418 [GRCh38]
Chr16:30198739 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_007074.4(CORO1A):c.533C>T (p.Thr178Met) single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV001940395] Chr16:30187120 [GRCh38]
Chr16:30198441 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_007074.4(CORO1A):c.374T>C (p.Val125Ala) single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV001917040] Chr16:30186868 [GRCh38]
Chr16:30198189 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_007074.4(CORO1A):c.199-16C>G single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV002085647] Chr16:30186582 [GRCh38]
Chr16:30197903 [GRCh37]
Chr16:16p11.2		 likely benign
NM_007074.4(CORO1A):c.729T>C (p.Ser243=) single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV002187811] Chr16:30187474 [GRCh38]
Chr16:30198795 [GRCh37]
Chr16:16p11.2		 likely benign
NM_007074.4(CORO1A):c.199-18G>A single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV002147039] Chr16:30186580 [GRCh38]
Chr16:30197901 [GRCh37]
Chr16:16p11.2		 likely benign
NM_007074.4(CORO1A):c.757-15C>A single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV002206389] Chr16:30187710 [GRCh38]
Chr16:30199031 [GRCh37]
Chr16:16p11.2		 likely benign
NM_007074.4(CORO1A):c.1212G>C (p.Leu404=) single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV002189292] Chr16:30188507 [GRCh38]
Chr16:30199828 [GRCh37]
Chr16:16p11.2		 likely benign
NM_007074.4(CORO1A):c.1110C>T (p.Pro370=) single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV002087576] Chr16:30188405 [GRCh38]
Chr16:30199726 [GRCh37]
Chr16:16p11.2		 likely benign
NM_007074.4(CORO1A):c.1251A>C (p.Ala417=) single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV002109609] Chr16:30188546 [GRCh38]
Chr16:30199867 [GRCh37]
Chr16:16p11.2		 likely benign
NM_007074.4(CORO1A):c.795C>T (p.Asp265=) single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV002165155] Chr16:30187763 [GRCh38]
Chr16:30199084 [GRCh37]
Chr16:16p11.2		 likely benign
NM_007074.4(CORO1A):c.452-14_452-13del microsatellite Severe combined immunodeficiency due to CORO1A deficiency [RCV002172362] Chr16:30187023..30187024 [GRCh38]
Chr16:30198344..30198345 [GRCh37]
Chr16:16p11.2		 likely benign
NM_007074.4(CORO1A):c.756+11G>A single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV002145998] Chr16:30187512 [GRCh38]
Chr16:30198833 [GRCh37]
Chr16:16p11.2		 likely benign
NM_007074.4(CORO1A):c.1032G>A (p.Arg344=) single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV002130433] Chr16:30188216 [GRCh38]
Chr16:30199537 [GRCh37]
Chr16:16p11.2		 likely benign
NM_007074.4(CORO1A):c.861+24_861+29del microsatellite Severe combined immunodeficiency due to CORO1A deficiency [RCV002113564] Chr16:30187845..30187850 [GRCh38]
Chr16:30199166..30199171 [GRCh37]
Chr16:16p11.2		 likely benign
NM_007074.4(CORO1A):c.199-12C>T single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV002113572] Chr16:30186586 [GRCh38]
Chr16:30197907 [GRCh37]
Chr16:16p11.2		 likely benign
NM_007074.4(CORO1A):c.756+12G>A single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV002197656] Chr16:30187513 [GRCh38]
Chr16:30198834 [GRCh37]
Chr16:16p11.2		 likely benign
NC_000016.10:g.(29449194_29595531)_(30188533_30335547)del deletion See cases [RCV002227010] Chr16:29595531..30188533 [GRCh38]
Chr16:16p11.2		 likely pathogenic|low penetrance
NM_007074.4(CORO1A):c.198+17C>T single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV002154389] Chr16:30185424 [GRCh38]
Chr16:30196745 [GRCh37]
Chr16:16p11.2		 likely benign
NM_007074.4(CORO1A):c.862-13C>G single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV002119935] Chr16:30187929 [GRCh38]
Chr16:30199250 [GRCh37]
Chr16:16p11.2		 likely benign
NM_007074.4(CORO1A):c.757-17_757-16insGA insertion Severe combined immunodeficiency due to CORO1A deficiency [RCV002217621] Chr16:30187708..30187709 [GRCh38]
Chr16:30199029..30199030 [GRCh37]
Chr16:16p11.2		 likely benign
NM_007074.4(CORO1A):c.757-16T>G single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV002217622] Chr16:30187709 [GRCh38]
Chr16:30199030 [GRCh37]
Chr16:16p11.2		 likely benign
NM_007074.4(CORO1A):c.1224G>C (p.Arg408=) single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV002138489] Chr16:30188519 [GRCh38]
Chr16:30199840 [GRCh37]
Chr16:16p11.2		 likely benign
NM_007074.4(CORO1A):c.408T>C (p.Ile136=) single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV002220104] Chr16:30186902 [GRCh38]
Chr16:30198223 [GRCh37]
Chr16:16p11.2		 likely benign
NM_007074.4(CORO1A):c.861+14G>A single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV002216756] Chr16:30187843 [GRCh38]
Chr16:30199164 [GRCh37]
Chr16:16p11.2		 likely benign
NM_007074.4(CORO1A):c.637-14C>T single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV002177434] Chr16:30187368 [GRCh38]
Chr16:30198689 [GRCh37]
Chr16:16p11.2		 likely benign
NM_007074.4(CORO1A):c.261C>T (p.Ile87=) single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV002177658] Chr16:30186660 [GRCh38]
Chr16:30197981 [GRCh37]
Chr16:16p11.2		 likely benign
NM_007074.4(CORO1A):c.861+11C>T single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV002135529] Chr16:30187840 [GRCh38]
Chr16:30199161 [GRCh37]
Chr16:16p11.2		 likely benign
NM_007074.4(CORO1A):c.861+19G>A single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV002197891] Chr16:30187848 [GRCh38]
Chr16:30199169 [GRCh37]
Chr16:16p11.2		 benign
NM_007074.4(CORO1A):c.768G>A (p.Glu256=) single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV002216895] Chr16:30187736 [GRCh38]
Chr16:30199057 [GRCh37]
Chr16:16p11.2		 likely benign
NM_007074.4(CORO1A):c.862-14C>A single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV002142044] Chr16:30187928 [GRCh38]
Chr16:30199249 [GRCh37]
Chr16:16p11.2		 likely benign
NC_000016.9:g.(?_30199895)_(30237215_?)del deletion Severe combined immunodeficiency due to CORO1A deficiency [RCV003109607] Chr16:30199895..30237215 [GRCh37]
Chr16:16p11.2		 uncertain significance
NC_000016.10:g.29640592_30187862del deletion Proximal 16p11.2 microdeletion syndrome [RCV003313807] Chr16:29640592..30187862 [GRCh38]
Chr16:16p11.2		 pathogenic|likely pathogenic
GRCh37/hg19 16p11.2(chr16:29601322-30201321)x1 copy number loss See cases [RCV002246172] Chr16:29601322..30201321 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29674300-30200008)x1 copy number loss not provided [RCV002262529] Chr16:29674300..30200008 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29628661-30306955) copy number gain Chromosome 16p11.2 duplication syndrome [RCV002280688] Chr16:29628661..30306955 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_007074.4(CORO1A):c.1278_1279insCC (p.Ser427fs) insertion Severe combined immunodeficiency disease [RCV002266435] Chr16:30188572..30188573 [GRCh38]
Chr16:30199893..30199894 [GRCh37]
Chr16:16p11.2		 likely pathogenic
GRCh37/hg19 16p11.2(chr16:29567296-30240227)x1 copy number loss not provided [RCV002473793] Chr16:29567296..30240227 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p13.3-11.2(chr16:4380767-30445350)x3 copy number gain not provided [RCV002472599] Chr16:4380767..30445350 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29567296-30240227)x3 copy number gain not provided [RCV002473789] Chr16:29567296..30240227 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29432213-30240227)x1 copy number loss not provided [RCV002473521] Chr16:29432213..30240227 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_007074.4(CORO1A):c.1180G>A (p.Asp394Asn) single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV002299343] Chr16:30188475 [GRCh38]
Chr16:30199796 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_007074.4(CORO1A):c.189_190dup (p.Leu64fs) duplication Sinoatrial node disorder [RCV002305649] Chr16:30185395..30185396 [GRCh38]
Chr16:30196716..30196717 [GRCh37]
Chr16:16p11.2		 likely pathogenic
NM_007074.4(CORO1A):c.878G>A (p.Arg293Gln) single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV002858408] Chr16:30187958 [GRCh38]
Chr16:30199279 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_007074.4(CORO1A):c.1080G>A (p.Gln360=) single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV003074449] Chr16:30188375 [GRCh38]
Chr16:30199696 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_007074.4(CORO1A):c.646C>T (p.Arg216Cys) single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV002991519] Chr16:30187391 [GRCh38]
Chr16:30198712 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_007074.4(CORO1A):c.352C>T (p.Leu118=) single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV002843384] Chr16:30186846 [GRCh38]
Chr16:30198167 [GRCh37]
Chr16:16p11.2		 likely benign
NM_007074.4(CORO1A):c.1100C>G (p.Thr367Ser) single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV002775312] Chr16:30188395 [GRCh38]
Chr16:30199716 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_007074.4(CORO1A):c.1023C>A (p.His341Gln) single nucleotide variant Inborn genetic diseases [RCV002816840] Chr16:30188207 [GRCh38]
Chr16:30199528 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_007074.4(CORO1A):c.1098C>T (p.Pro366=) single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV003016661] Chr16:30188393 [GRCh38]
Chr16:30199714 [GRCh37]
Chr16:16p11.2		 likely benign
NM_007074.4(CORO1A):c.471G>T (p.Met157Ile) single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV003020856] Chr16:30187058 [GRCh38]
Chr16:30198379 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_007074.4(CORO1A):c.82G>A (p.Val28Met) single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV003002573] Chr16:30185291 [GRCh38]
Chr16:30196612 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_007074.4(CORO1A):c.1023C>T (p.His341=) single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV002780618] Chr16:30188207 [GRCh38]
Chr16:30199528 [GRCh37]
Chr16:16p11.2		 likely benign
NM_007074.4(CORO1A):c.195_198+13dup duplication Severe combined immunodeficiency due to CORO1A deficiency [RCV002785648] Chr16:30185394..30185395 [GRCh38]
Chr16:30196715..30196716 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_007074.4(CORO1A):c.1068G>C (p.Ser356=) single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV002871213] Chr16:30188363 [GRCh38]
Chr16:30199684 [GRCh37]
Chr16:16p11.2		 likely benign
NM_007074.4(CORO1A):c.679G>C (p.Val227Leu) single nucleotide variant Inborn genetic diseases [RCV002821172] Chr16:30187424 [GRCh38]
Chr16:30198745 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_007074.4(CORO1A):c.1065+13C>T single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV003053296] Chr16:30188262 [GRCh38]
Chr16:30199583 [GRCh37]
Chr16:16p11.2		 likely benign
NM_007074.4(CORO1A):c.1234A>G (p.Thr412Ala) single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV002781242] Chr16:30188529 [GRCh38]
Chr16:30199850 [GRCh37]
Chr16:16p11.2		 likely benign
NM_007074.4(CORO1A):c.1156G>A (p.Gly386Arg) single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV002796211] Chr16:30188451 [GRCh38]
Chr16:30199772 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_007074.4(CORO1A):c.549C>G (p.Asp183Glu) single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV003018558] Chr16:30187136 [GRCh38]
Chr16:30198457 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_007074.4(CORO1A):c.1249dup (p.Ala417fs) duplication Severe combined immunodeficiency due to CORO1A deficiency [RCV002796820] Chr16:30188541..30188542 [GRCh38]
Chr16:30199862..30199863 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_007074.4(CORO1A):c.188C>G (p.Pro63Arg) single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV003054054] Chr16:30185397 [GRCh38]
Chr16:30196718 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_007074.4(CORO1A):c.452-12G>C single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV002800042] Chr16:30187027 [GRCh38]
Chr16:30198348 [GRCh37]
Chr16:16p11.2		 likely benign
NM_007074.4(CORO1A):c.743C>T (p.Ala248Val) single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV002824299] Chr16:30187488 [GRCh38]
Chr16:30198809 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_007074.4(CORO1A):c.861+10T>C single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV002569532] Chr16:30187839 [GRCh38]
Chr16:30199160 [GRCh37]
Chr16:16p11.2		 likely benign
NM_007074.4(CORO1A):c.35G>T (p.Arg12Leu) single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV002933418] Chr16:30185244 [GRCh38]
Chr16:30196565 [GRCh37]
Chr16:16p11.2		 likely pathogenic
NM_007074.4(CORO1A):c.321+5G>A single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV003042509] Chr16:30186725 [GRCh38]
Chr16:30198046 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_007074.4(CORO1A):c.882C>T (p.Tyr294=) single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV003026077] Chr16:30187962 [GRCh38]
Chr16:30199283 [GRCh37]
Chr16:16p11.2		 likely benign
NM_007074.4(CORO1A):c.63C>A (p.Ala21=) single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV002766608] Chr16:30185272 [GRCh38]
Chr16:30196593 [GRCh37]
Chr16:16p11.2		 likely benign
NM_007074.4(CORO1A):c.1068G>A (p.Ser356=) single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV002985402] Chr16:30188363 [GRCh38]
Chr16:30199684 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_007074.4(CORO1A):c.672G>C (p.Val224=) single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV002786568] Chr16:30187417 [GRCh38]
Chr16:30198738 [GRCh37]
Chr16:16p11.2		 likely benign
GRCh37/hg19 16p11.2(chr16:29670770-30207956)x3 copy number gain Chromosome 16p11.2 duplication syndrome [RCV002509008] Chr16:29670770..30207956 [GRCh37]
Chr16:16p11.2		 not provided
NM_007074.4(CORO1A):c.862-7C>T single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV002623909] Chr16:30187935 [GRCh38]
Chr16:30199256 [GRCh37]
Chr16:16p11.2		 likely benign
NM_007074.4(CORO1A):c.103T>C (p.Trp35Arg) single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV003055881] Chr16:30185312 [GRCh38]
Chr16:30196633 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_007074.4(CORO1A):c.760C>T (p.His254Tyr) single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV002745512] Chr16:30187728 [GRCh38]
Chr16:30199049 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_007074.4(CORO1A):c.292G>A (p.Ala98Thr) single nucleotide variant Inborn genetic diseases [RCV002713158] Chr16:30186691 [GRCh38]
Chr16:30198012 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_007074.4(CORO1A):c.1066-8G>A single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV002667658] Chr16:30188353 [GRCh38]
Chr16:30199674 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_007074.4(CORO1A):c.221C>T (p.Ala74Val) single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV002572450] Chr16:30186620 [GRCh38]
Chr16:30197941 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_007074.4(CORO1A):c.350T>C (p.Met117Thr) single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV002626884] Chr16:30186844 [GRCh38]
Chr16:30198165 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_007074.4(CORO1A):c.1195C>T (p.Pro399Ser) single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV002829298] Chr16:30188490 [GRCh38]
Chr16:30199811 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_007074.4(CORO1A):c.39C>T (p.His13=) single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV003084711] Chr16:30185248 [GRCh38]
Chr16:30196569 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_007074.4(CORO1A):c.609C>T (p.Ile203=) single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV002918577] Chr16:30187196 [GRCh38]
Chr16:30198517 [GRCh37]
Chr16:16p11.2		 likely benign
NM_007074.4(CORO1A):c.198+3G>A single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV002646035] Chr16:30185410 [GRCh38]
Chr16:30196731 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_007074.4(CORO1A):c.322-14C>A single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV003065378] Chr16:30186802 [GRCh38]
Chr16:30198123 [GRCh37]
Chr16:16p11.2		 likely benign
NM_007074.4(CORO1A):c.517G>T (p.Glu173Ter) single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV003031427] Chr16:30187104 [GRCh38]
Chr16:30198425 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_007074.4(CORO1A):c.1007+14G>A single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV002601214] Chr16:30188101 [GRCh38]
Chr16:30199422 [GRCh37]
Chr16:16p11.2		 likely benign
NM_007074.4(CORO1A):c.534G>A (p.Thr178=) single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV002933571] Chr16:30187121 [GRCh38]
Chr16:30198442 [GRCh37]
Chr16:16p11.2		 likely benign
NM_007074.4(CORO1A):c.636+20G>A single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV002806650] Chr16:30187243 [GRCh38]
Chr16:30198564 [GRCh37]
Chr16:16p11.2		 likely benign
NM_007074.4(CORO1A):c.199-20A>T single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV002833806] Chr16:30186578 [GRCh38]
Chr16:30197899 [GRCh37]
Chr16:16p11.2		 likely benign
NM_007074.4(CORO1A):c.1115C>G (p.Pro372Arg) single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV002647840] Chr16:30188410 [GRCh38]
Chr16:30199731 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_007074.4(CORO1A):c.1172C>T (p.Ser391Phe) single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV003088824] Chr16:30188467 [GRCh38]
Chr16:30199788 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_007074.4(CORO1A):c.322-5T>C single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV002988683] Chr16:30186811 [GRCh38]
Chr16:30198132 [GRCh37]
Chr16:16p11.2		 likely benign
NM_007074.4(CORO1A):c.1210C>G (p.Leu404Val) single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV003090298] Chr16:30188505 [GRCh38]
Chr16:30199826 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_007074.4(CORO1A):c.757-18T>C single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV002671904] Chr16:30187707 [GRCh38]
Chr16:30199028 [GRCh37]
Chr16:16p11.2		 likely benign
NM_007074.4(CORO1A):c.249T>A (p.Pro83=) single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV002937111] Chr16:30186648 [GRCh38]
Chr16:30197969 [GRCh37]
Chr16:16p11.2		 likely benign
NM_007074.4(CORO1A):c.954C>A (p.Gly318=) single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV002580202] Chr16:30188034 [GRCh38]
Chr16:30199355 [GRCh37]
Chr16:16p11.2		 likely benign
NM_007074.4(CORO1A):c.1168A>C (p.Ile390Leu) single nucleotide variant Inborn genetic diseases [RCV002878242] Chr16:30188463 [GRCh38]
Chr16:30199784 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_007074.4(CORO1A):c.744G>A (p.Ala248=) single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV002599847] Chr16:30187489 [GRCh38]
Chr16:30198810 [GRCh37]
Chr16:16p11.2		 likely benign
NM_007074.4(CORO1A):c.361C>T (p.Arg121Trp) single nucleotide variant Inborn genetic diseases [RCV002900929] Chr16:30186855 [GRCh38]
Chr16:30198176 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_007074.4(CORO1A):c.1124C>G (p.Thr375Arg) single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV003026762] Chr16:30188419 [GRCh38]
Chr16:30199740 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_007074.4(CORO1A):c.1127C>G (p.Ala376Gly) single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV002634871] Chr16:30188422 [GRCh38]
Chr16:30199743 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_007074.4(CORO1A):c.664C>T (p.Arg222Trp) single nucleotide variant Inborn genetic diseases [RCV002944905] Chr16:30187409 [GRCh38]
Chr16:30198730 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_007074.4(CORO1A):c.255A>T (p.Leu85=) single nucleotide variant CORO1A-related condition [RCV003898839]|Severe combined immunodeficiency due to CORO1A deficiency [RCV002605939] Chr16:30186654 [GRCh38]
Chr16:30197975 [GRCh37]
Chr16:16p11.2		 likely benign
NM_007074.4(CORO1A):c.494C>T (p.Ala165Val) single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV002588803] Chr16:30187081 [GRCh38]
Chr16:30198402 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_007074.4(CORO1A):c.1065+13del deletion Severe combined immunodeficiency due to CORO1A deficiency [RCV002653520] Chr16:30188258 [GRCh38]
Chr16:30199579 [GRCh37]
Chr16:16p11.2		 benign
NM_007074.4(CORO1A):c.1233C>T (p.Asp411=) single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV003070867] Chr16:30188528 [GRCh38]
Chr16:30199849 [GRCh37]
Chr16:16p11.2		 likely benign
NM_007074.4(CORO1A):c.861+9G>A single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV003070924] Chr16:30187838 [GRCh38]
Chr16:30199159 [GRCh37]
Chr16:16p11.2		 likely benign
NM_007074.4(CORO1A):c.1251A>G (p.Ala417=) single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV002607211] Chr16:30188546 [GRCh38]
Chr16:30199867 [GRCh37]
Chr16:16p11.2		 likely benign
NM_007074.4(CORO1A):c.1269C>T (p.Gly423=) single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV002607212] Chr16:30188564 [GRCh38]
Chr16:30199885 [GRCh37]
Chr16:16p11.2		 likely benign
NM_007074.4(CORO1A):c.1008-8T>A single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV002589367] Chr16:30188184 [GRCh38]
Chr16:30199505 [GRCh37]
Chr16:16p11.2		 likely benign
NM_007074.4(CORO1A):c.1212G>A (p.Leu404=) single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV002725478] Chr16:30188507 [GRCh38]
Chr16:30199828 [GRCh37]
Chr16:16p11.2		 likely benign
NM_007074.4(CORO1A):c.321+15G>T single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV002654955] Chr16:30186735 [GRCh38]
Chr16:30198056 [GRCh37]
Chr16:16p11.2		 benign
NM_007074.4(CORO1A):c.1271C>G (p.Thr424Ser) single nucleotide variant Inborn genetic diseases [RCV003193377] Chr16:30188566 [GRCh38]
Chr16:30199887 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_007074.4(CORO1A):c.631G>A (p.Val211Ile) single nucleotide variant Inborn genetic diseases [RCV003175397] Chr16:30187218 [GRCh38]
Chr16:30198539 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_007074.4(CORO1A):c.602G>A (p.Arg201His) single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV003228218] Chr16:30187189 [GRCh38]
Chr16:30198510 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_007074.4(CORO1A):c.721C>T (p.Arg241Cys) single nucleotide variant Inborn genetic diseases [RCV003285608] Chr16:30187466 [GRCh38]
Chr16:30198787 [GRCh37]
Chr16:16p11.2		 uncertain significance
GRCh37/hg19 16p11.2(chr16:29656684-30197341)x1 copy number loss Proximal 16p11.2 microdeletion syndrome [RCV003322581] Chr16:29656684..30197341 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29511270-30243006)x1 copy number loss BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 [RCV003329517] Chr16:29511270..30243006 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29517464-30199839)x1 copy number loss Distal 16p11.2 microdeletion syndrome [RCV003329536] Chr16:29517464..30199839 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29517464-30200058)x3 copy number gain Distal 16p11.2 microdeletion syndrome [RCV003329525] Chr16:29517464..30200058 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29517464-30200058)x1 copy number loss Distal 16p11.2 microdeletion syndrome [RCV003329542] Chr16:29517464..30200058 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29674568-30199897)x3 copy number gain not provided [RCV003334193] Chr16:29674568..30199897 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_007074.4(CORO1A):c.1195C>A (p.Pro399Thr) single nucleotide variant Inborn genetic diseases [RCV003360542] Chr16:30188490 [GRCh38]
Chr16:30199811 [GRCh37]
Chr16:16p11.2		 uncertain significance
GRCh37/hg19 16p11.2(chr16:29495010-30212427)x1 copy number loss not provided [RCV003456961] Chr16:29495010..30212427 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_007074.4(CORO1A):c.451+11A>G single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV003874752] Chr16:30186956 [GRCh38]
Chr16:30198277 [GRCh37]
Chr16:16p11.2		 likely benign
Single allele duplication not provided [RCV003448664] Chr16:29651786..30199024 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29343245-30240227)x1 copy number loss not provided [RCV003483285] Chr16:29343245..30240227 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29432213-30226930)x1 copy number loss not provided [RCV003483288] Chr16:29432213..30226930 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29597823-30321320)x3 copy number gain not provided [RCV003485111] Chr16:29597823..30321320 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29589674-30226930)x1 copy number loss not provided [RCV003483290] Chr16:29589674..30226930 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_007074.4(CORO1A):c.199-15C>T single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV003876044] Chr16:30186583 [GRCh38]
Chr16:30197904 [GRCh37]
Chr16:16p11.2		 likely benign
NM_007074.4(CORO1A):c.129C>T (p.Asn43=) single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV003741606] Chr16:30185338 [GRCh38]
Chr16:30196659 [GRCh37]
Chr16:16p11.2		 likely benign
NM_007074.4(CORO1A):c.756_756+1del deletion Severe combined immunodeficiency due to CORO1A deficiency [RCV003741698] Chr16:30187501..30187502 [GRCh38]
Chr16:30198822..30198823 [GRCh37]
Chr16:16p11.2		 likely pathogenic
NM_007074.4(CORO1A):c.198+13G>C single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV003581534] Chr16:30185420 [GRCh38]
Chr16:30196741 [GRCh37]
Chr16:16p11.2		 likely benign
NM_007074.4(CORO1A):c.19C>T (p.Arg7Cys) single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV003741805] Chr16:30185228 [GRCh38]
Chr16:30196549 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_007074.4(CORO1A):c.684C>T (p.Phe228=) single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV003740667] Chr16:30187429 [GRCh38]
Chr16:30198750 [GRCh37]
Chr16:16p11.2		 likely benign
NM_007074.4(CORO1A):c.321G>A (p.Met107Ile) single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV003742010] Chr16:30186720 [GRCh38]
Chr16:30198041 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_007074.4(CORO1A):c.255A>G (p.Leu85=) single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV003740859] Chr16:30186654 [GRCh38]
Chr16:30197975 [GRCh37]
Chr16:16p11.2		 likely benign
NM_007074.4(CORO1A):c.636+15_636+17del deletion Severe combined immunodeficiency due to CORO1A deficiency [RCV003740808] Chr16:30187238..30187240 [GRCh38]
Chr16:30198559..30198561 [GRCh37]
Chr16:16p11.2		 likely benign
NM_007074.4(CORO1A):c.903C>T (p.Ala301=) single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV003742317] Chr16:30187983 [GRCh38]
Chr16:30199304 [GRCh37]
Chr16:16p11.2		 likely benign
NM_007074.4(CORO1A):c.451+16G>A single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV003581075] Chr16:30186961 [GRCh38]
Chr16:30198282 [GRCh37]
Chr16:16p11.2		 likely benign
NM_007074.4(CORO1A):c.303C>T (p.Ser101=) single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV003582514] Chr16:30186702 [GRCh38]
Chr16:30198023 [GRCh37]
Chr16:16p11.2		 likely benign
NM_007074.4(CORO1A):c.186G>C (p.Leu62=) single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV003582623] Chr16:30185395 [GRCh38]
Chr16:30196716 [GRCh37]
Chr16:16p11.2		 likely benign
NM_007074.4(CORO1A):c.954C>G (p.Gly318=) single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV003581082] Chr16:30188034 [GRCh38]
Chr16:30199355 [GRCh37]
Chr16:16p11.2		 likely benign
NM_007074.4(CORO1A):c.615C>T (p.Pro205=) single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV003741033] Chr16:30187202 [GRCh38]
Chr16:30198523 [GRCh37]
Chr16:16p11.2		 likely benign
NM_007074.4(CORO1A):c.861+12G>A single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV003581238] Chr16:30187841 [GRCh38]
Chr16:30199162 [GRCh37]
Chr16:16p11.2		 likely benign
NM_007074.4(CORO1A):c.636+18C>T single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV003740755] Chr16:30187241 [GRCh38]
Chr16:30198562 [GRCh37]
Chr16:16p11.2		 likely benign
NM_007074.4(CORO1A):c.147G>A (p.Leu49=) single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV003742089] Chr16:30185356 [GRCh38]
Chr16:30196677 [GRCh37]
Chr16:16p11.2		 likely benign
NM_007074.4(CORO1A):c.735G>A (p.Arg245=) single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV003581972] Chr16:30187480 [GRCh38]
Chr16:30198801 [GRCh37]
Chr16:16p11.2		 likely benign
NM_007074.4(CORO1A):c.198+20G>C single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV003856611] Chr16:30185427 [GRCh38]
Chr16:30196748 [GRCh37]
Chr16:16p11.2		 likely benign
NM_007074.4(CORO1A):c.1007+15dup duplication Severe combined immunodeficiency due to CORO1A deficiency [RCV003816326] Chr16:30188100..30188101 [GRCh38]
Chr16:30199421..30199422 [GRCh37]
Chr16:16p11.2		 likely benign
NM_007074.4(CORO1A):c.1008-10C>T single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV003742197] Chr16:30188182 [GRCh38]
Chr16:30199503 [GRCh37]
Chr16:16p11.2		 likely benign
NM_007074.4(CORO1A):c.1089G>A (p.Leu363=) single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV003742448] Chr16:30188384 [GRCh38]
Chr16:30199705 [GRCh37]
Chr16:16p11.2		 likely benign
NM_007074.4(CORO1A):c.636+7C>T single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV003582670] Chr16:30187230 [GRCh38]
Chr16:30198551 [GRCh37]
Chr16:16p11.2		 likely benign
NM_007074.4(CORO1A):c.451+7C>G single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV003742543] Chr16:30186952 [GRCh38]
Chr16:30198273 [GRCh37]
Chr16:16p11.2		 likely benign
NM_007074.4(CORO1A):c.582C>A (p.Ser194=) single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV003741484] Chr16:30187169 [GRCh38]
Chr16:30198490 [GRCh37]
Chr16:16p11.2		 likely benign
NM_007074.4(CORO1A):c.1020G>A (p.Leu340=) single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV003741517] Chr16:30188204 [GRCh38]
Chr16:30199525 [GRCh37]
Chr16:16p11.2		 likely benign
NM_007074.4(CORO1A):c.1122C>A (p.Leu374=) single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV003582310] Chr16:30188417 [GRCh38]
Chr16:30199738 [GRCh37]
Chr16:16p11.2		 likely benign
NM_007074.4(CORO1A):c.1134G>A (p.Glu378=) single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV003582523] Chr16:30188429 [GRCh38]
Chr16:30199750 [GRCh37]
Chr16:16p11.2		 likely benign
NM_007074.4(CORO1A):c.249T>G (p.Pro83=) single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV003741975] Chr16:30186648 [GRCh38]
Chr16:30197969 [GRCh37]
Chr16:16p11.2		 likely benign
NM_007074.4(CORO1A):c.1066-13G>A single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV003582198] Chr16:30188348 [GRCh38]
Chr16:30199669 [GRCh37]
Chr16:16p11.2		 likely benign
NM_007074.4(CORO1A):c.1065+15C>T single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV003742176] Chr16:30188264 [GRCh38]
Chr16:30199585 [GRCh37]
Chr16:16p11.2		 likely benign
NM_007074.4(CORO1A):c.1218C>T (p.Val406=) single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV003741399] Chr16:30188513 [GRCh38]
Chr16:30199834 [GRCh37]
Chr16:16p11.2		 likely benign
NM_007074.4(CORO1A):c.249T>C (p.Pro83=) single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV003740687] Chr16:30186648 [GRCh38]
Chr16:30197969 [GRCh37]
Chr16:16p11.2		 likely benign
NM_007074.4(CORO1A):c.915C>T (p.His305=) single nucleotide variant Severe combined immunodeficiency due to CORO1A deficiency [RCV003867281] Chr16:30187995 [GRCh38]
Chr16:30199316 [GRCh37]
Chr16:16p11.2		 likely benign
GRCh38/hg38 16p11.2(chr16:29642391-30204353) copy number loss Epilepsy syndrome [RCV003986077] Chr16:29642391..30204353 [GRCh38]
Chr16:16p11.2		 pathogenic|low penetrance
NM_007074.4(CORO1A):c.1007+8del deletion Severe combined immunodeficiency due to CORO1A deficiency [RCV003860227] Chr16:30188095 [GRCh38]
Chr16:30199416 [GRCh37]
Chr16:16p11.2		 likely benign
GRCh37/hg19 16p11.2(chr16:29472703-30256894)x1 copy number loss not provided [RCV003885479] Chr16:29472703..30256894 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_007074.4(CORO1A):c.519G>A (p.Glu173=) single nucleotide variant CORO1A-related condition [RCV003924120] Chr16:30187106 [GRCh38]
Chr16:30198427 [GRCh37]
Chr16:16p11.2		 likely benign
NM_007074.4(CORO1A):c.495G>A (p.Ala165=) single nucleotide variant CORO1A-related condition [RCV003934689] Chr16:30187082 [GRCh38]
Chr16:30198403 [GRCh37]
Chr16:16p11.2		 likely benign
GRCh37/hg19 16p11.2(chr16:29495010-30200397)x1 copy number loss not provided [RCV003885480] Chr16:29495010..30200397 [GRCh37]
Chr16:16p11.2		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:5451
Count of miRNA genes:1009
Interacting mature miRNAs:1274
Transcripts:ENST00000219150, ENST00000561815, ENST00000561849, ENST00000562129, ENST00000563778, ENST00000564446, ENST00000564768, ENST00000565497, ENST00000566619, ENST00000567034, ENST00000568763, ENST00000568982, ENST00000569203, ENST00000569469, ENST00000569970, ENST00000570045, ENST00000570244
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region
RH47208  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map16p11.2UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High 277 291
Medium 1539 1447 1133 285 1636 163 2396 458 3155 191 727 1303 127 1118 1374 1
Low 872 1259 585 336 21 299 1924 1716 550 216 708 290 43 86 1400 3
Below cutoff 21 1 5 1 2 32 19 3 10 12 15 14

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_023415 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001193333 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_007074 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB209221 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC012645 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC243947 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF495470 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK096332 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK097964 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK123401 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296207 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK314714 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC110374 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC126385 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC126387 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CD623635 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471238 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D44497 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA256300 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC408372 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ214031 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U34690 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X89109 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000219150   ⟹   ENSP00000219150
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1630,183,602 - 30,189,076 (+)Ensembl
RefSeq Acc Id: ENST00000561815   ⟹   ENSP00000456756
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1630,182,987 - 30,187,133 (+)Ensembl
RefSeq Acc Id: ENST00000561849
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1630,184,218 - 30,185,648 (+)Ensembl
RefSeq Acc Id: ENST00000562129
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1630,188,075 - 30,188,572 (+)Ensembl
RefSeq Acc Id: ENST00000563778   ⟹   ENSP00000456266
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1630,182,827 - 30,187,494 (+)Ensembl
RefSeq Acc Id: ENST00000564446
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1630,183,514 - 30,184,421 (+)Ensembl
RefSeq Acc Id: ENST00000564768
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1630,186,682 - 30,189,075 (+)Ensembl
RefSeq Acc Id: ENST00000565497   ⟹   ENSP00000456457
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1630,183,619 - 30,189,034 (+)Ensembl
RefSeq Acc Id: ENST00000566619
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1630,183,609 - 30,186,118 (+)Ensembl
RefSeq Acc Id: ENST00000567034
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1630,185,932 - 30,189,075 (+)Ensembl
RefSeq Acc Id: ENST00000568763
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1630,183,605 - 30,189,075 (+)Ensembl
RefSeq Acc Id: ENST00000568982
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1630,183,609 - 30,187,132 (+)Ensembl
RefSeq Acc Id: ENST00000569203   ⟹   ENSP00000454752
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1630,183,825 - 30,186,938 (+)Ensembl
RefSeq Acc Id: ENST00000569469
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1630,183,617 - 30,187,167 (+)Ensembl
RefSeq Acc Id: ENST00000569970   ⟹   ENSP00000457509
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1630,184,748 - 30,187,083 (+)Ensembl
RefSeq Acc Id: ENST00000570045   ⟹   ENSP00000455552
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1630,183,609 - 30,188,964 (+)Ensembl
RefSeq Acc Id: ENST00000570244   ⟹   ENSP00000457332
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1630,183,621 - 30,187,829 (+)Ensembl
RefSeq Acc Id: ENST00000696217
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1630,186,414 - 30,189,059 (+)Ensembl
RefSeq Acc Id: NM_001193333   ⟹   NP_001180262
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381630,183,602 - 30,189,076 (+)NCBI
GRCh371630,194,731 - 30,200,397 (+)ENTREZGENE
HuRef1627,857,375 - 27,863,041 (+)ENTREZGENE
CHM1_11631,409,355 - 31,415,021 (+)NCBI
T2T-CHM13v2.01630,468,184 - 30,473,658 (+)NCBI
Sequence:
RefSeq Acc Id: NM_007074   ⟹   NP_009005
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381630,183,602 - 30,189,076 (+)NCBI
GRCh371630,194,731 - 30,200,397 (+)ENTREZGENE
Build 361630,102,427 - 30,107,898 (+)NCBI Archive
HuRef1627,857,375 - 27,863,041 (+)ENTREZGENE
CHM1_11631,409,355 - 31,415,021 (+)NCBI
T2T-CHM13v2.01630,468,184 - 30,473,658 (+)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_001180262   ⟸   NM_001193333
- UniProtKB: B2RBL1 (UniProtKB/Swiss-Prot),   Q2YD73 (UniProtKB/Swiss-Prot),   P31146 (UniProtKB/Swiss-Prot),   H3BRY3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_009005   ⟸   NM_007074
- UniProtKB: B2RBL1 (UniProtKB/Swiss-Prot),   Q2YD73 (UniProtKB/Swiss-Prot),   P31146 (UniProtKB/Swiss-Prot),   H3BRY3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000457509   ⟸   ENST00000569970
RefSeq Acc Id: ENSP00000457332   ⟸   ENST00000570244
RefSeq Acc Id: ENSP00000455552   ⟸   ENST00000570045
RefSeq Acc Id: ENSP00000219150   ⟸   ENST00000219150
RefSeq Acc Id: ENSP00000456756   ⟸   ENST00000561815
RefSeq Acc Id: ENSP00000456266   ⟸   ENST00000563778
RefSeq Acc Id: ENSP00000456457   ⟸   ENST00000565497
RefSeq Acc Id: ENSP00000454752   ⟸   ENST00000569203
Protein Domains
DUF1899

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P31146-F1-model_v2 AlphaFold P31146 1-461 view protein structure

Promoters
RGD ID:6792926
Promoter ID:HG_KWN:23512
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000255195,   UC002DWX.1,   UC010BZQ.1,   UC010BZR.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361630,101,576 - 30,102,482 (+)MPROMDB
RGD ID:6851134
Promoter ID:EP73364
Type:multiple initiation site
Name:HS_CORO1A
Description:Coronin, actin binding protein, 1A.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 361630,102,428 - 30,102,488EPD
RGD ID:6792779
Promoter ID:HG_KWN:23513
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:UC002DWY.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361630,104,626 - 30,105,952 (+)MPROMDB
RGD ID:6810908
Promoter ID:HG_ACW:30238
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_12Hour,   HeLa_S3,   K562
Transcripts:CORO1A.KAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 361630,106,024 - 30,106,524 (+)MPROMDB
RGD ID:7231939
Promoter ID:EPDNEW_H21716
Type:initiation region
Name:CORO1A_1
Description:coronin 1A
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381630,183,606 - 30,183,666EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:2252 AgrOrtholog
COSMIC CORO1A COSMIC
Ensembl Genes ENSG00000102879 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000219150 ENTREZGENE
  ENST00000219150.10 UniProtKB/Swiss-Prot
  ENST00000561815.5 UniProtKB/TrEMBL
  ENST00000563778.5 UniProtKB/TrEMBL
  ENST00000565497.5 UniProtKB/TrEMBL
  ENST00000569203.5 UniProtKB/TrEMBL
  ENST00000569970.1 UniProtKB/TrEMBL
  ENST00000570045 ENTREZGENE
  ENST00000570045.5 UniProtKB/Swiss-Prot
  ENST00000570244.5 UniProtKB/TrEMBL
Gene3D-CATH 2.130.10.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000102879 GTEx
HGNC ID HGNC:2252 ENTREZGENE
Human Proteome Map CORO1A Human Proteome Map
InterPro Coronin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DUF1899 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Trimer_CC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD40/YVTN_repeat-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD40_repeat UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD40_repeat_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD40_repeat_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:11151 UniProtKB/Swiss-Prot
NCBI Gene 11151 ENTREZGENE
OMIM 605000 OMIM
PANTHER PTHR10856 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR10856:SF18 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam DUF1899 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Trimer_CC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD40 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD40_4 UniProtKB/Swiss-Prot
PharmGKB PA26768 PharmGKB
PROSITE WD_REPEATS_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD_REPEATS_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD_REPEATS_REGION UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART DUF1899 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DUF1900 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD40 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF50978 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B2RBL1 ENTREZGENE
  COR1A_HUMAN UniProtKB/Swiss-Prot
  H3BNA2_HUMAN UniProtKB/TrEMBL
  H3BRJ0_HUMAN UniProtKB/TrEMBL
  H3BRY3 ENTREZGENE, UniProtKB/TrEMBL
  H3BSL1_HUMAN UniProtKB/TrEMBL
  H3BTU6_HUMAN UniProtKB/TrEMBL
  H3BU76_HUMAN UniProtKB/TrEMBL
  P31146 ENTREZGENE
  Q2YD73 ENTREZGENE
UniProt Secondary B2RBL1 UniProtKB/Swiss-Prot
  Q2YD73 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-01-19 CORO1A  coronin 1A    coronin, actin binding protein, 1A  Symbol and/or name change 5135510 APPROVED